Overview

Dr. Farrer’s background is in biochemistry and human genetics. His interest in neuroscience began in children and families with Down syndrome, correlating genetic variability and clinical outcomes. His doctoral degree was in complex trait mapping with a focus on early intellectual disability and progressive age-asssociated cognitive dysfunction. In his early career as a geneticist he was involved in the creation of the first chromosome 21 physical and genetic maps.

Dr. Farrer's team are currently working on family-based exome and whole-genome re-sequencing, linkage and population association analyses to identify the molecular basis of neurologic and neurodegenerative disease.

Dr. Farrer also has active research interests in childhood seizure disorders, in Parkinson’s disease, cognition and dementias. Molecular neuroscience discoveries are used to create neuronal models of protein loss, function and dysfunction to develop a mechanistic understanding of the biological networks perturbed in neurologic and neurodegenerative disease. Models created are employed to identify druggable targets and to develop novel interventions/therapeutics strategies for patients and their families. The objective is to halt disease progression, for neuroprotection and not merely symptomatic benefit by targeting and treating the underlying molecular causes.

Publications

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
Lehman, A. and Thouta, S. and Mancini, G.M.S. and Naidu, S. and van Slegtenhorst, M. and McWalter, K. and Person, R. and Mwenifumbo, J. and Salvarinova, R. and Guella, I. and McKenzie, M.B. and Datta, A. and Connolly, M.B. and Kalkhoran, S.M. and Poburko, D. and Friedman, J.M. and Farrer, M.J. and Demos, M. and Desai, S. and Claydon, T.
DOI: 10.1016/j.ajhg.2017.05.016
2017

Gender differences in Parkinson's disease depression
Parkinsonism and Related Disorders
Perrin, A.J. and Nosova, E. and Co, K. and Book, A. and Iu, O. and Silva, V. and Thompson, C. and McKeown, M.J. and Stoessl, A.J. and Farrer, M.J. and Appel-Cresswell, S.
DOI: 10.1016/j.parkreldis.2016.12.026
2017

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study
Neurobiology of Aging
Wang, L., Heckman, M.G., Aasly, J.O., Annesi, G., Bozi, M., Chung, S.J., Clarke, C., Crosiers, D., Eckstein, G., Garraux, G., Hadjigeorgiou, G.M., Hattori, N., Jeon, B., Kim, Y.J., Kubo, M., Lesage, S., Lin, J.J., Lynch, T., Lichtner, P., Mellick, G.D., Mok, V., Morrison, K.E., Quattrone, A., Satake, W., Silburn, P.A., Stefanis, L., Stockton, J.D., Tan, E.K., Toda, T., Brice, A., Van Broeckhoven, C., Uitti, R.J., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Maraganore, D.M., Gasser, T., Krüger, R., Farrer, M.J., Ross, O.A., Sharma, M.
DOI: 10.1016/j.neurobiolaging.2016.09.022
2017

Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies
The Lancet Neurology
Wile, D.J. and Agarwal, P.A. and Schulzer, M. and Mak, E. and Dinelle, K. and Shahinfard, E. and Vafai, N. and Hasegawa, K. and Zhang, J. and McKenzie, J. and Neilson, N. and Strongosky, A. and Uitti, R.J. and Guttman, M. and Zabetian, C.P. and Ding, Y.-S. and Adam, M. and Aasly, J. and Wszolek, Z.K. and Farrer, M. and Sossi, V. and Stoessl, A.J.
DOI: 10.1016/S1474-4422(17)30056-X
2017

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
Brain
Puschmann, A., Fiesel, F.C., Caulfield, T.R., Hudec, R., Ando, M., Truban, D., Hou, X., Ogaki, K., Heckman, M.G., James, E.D., Swanberg, M., Jimenez-Ferrer, I., Hansson, O., Opala, G., Siuda, J., Boczarska-Jedynak, M., Friedman, A., Koziorowski, D., Rudzinska-Bar, M., Aasly, J.O., Lynch, T., Mellick, G.D., Mohan, M., Silburn, P.A., Sanotsky, Y., Vilarinõ-Güell, C., Farrer, M.J., Chen, L., Dawson, V.L., Dawson, T.M., Wszolek, Z.K., Ross, O.A., Springer, W.
DOI: 10.1093/brain/awx077
2017

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease
Neurobiology of Aging
Yoshino, H. and Hirano, M. and Stoessl, A.J. and Imamichi, Y. and Ikeda, A. and Li, Y. and Funayama, M. and Yamada, I. and Nakamura, Y. and Sossi, V. and Farrer, M.J. and Nishioka, K. and Hattori, N.
DOI: 10.1016/j.neurobiolaging.2017.05.022
2017

SCA2 family presenting as typical Parkinson's disease: 34 year follow up
Parkinsonism and Related Disorders
Kim, Y.E. and Jeon, B. and Farrer, M.J. and Scott, E. and Guella, I. and Park, S.S. and Kim, J.M. and Park, H.Y. and Kim, A. and Son, Y.D. and Cho, Z.H.
DOI: 10.1016/j.parkreldis.2017.04.003
2017

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
Brain : a journal of neurology
Puschmann, A., Fiesel, F.C., Caulfield, T.R., Hudec, R., Ando, M., Truban, D., Hou, X., Ogaki, K., Heckman, M.G., James, E.D., Swanberg, M., Jimenez-Ferrer, I., Hansson, O., Opala, G., Siuda, J., Boczarska-Jedynak, M., Friedman, A., Koziorowski, D., Aasly, J.O., Lynch, T., Mellick, G.D., Mohan, M., Silburn, P.A., Sanotsky, Y., Vilariño-Güell, C., Farrer, M.J., Chen, L., Dawson, V.L., Dawson, T.M., Wszolek, Z.K., Ross, O.A., Springer, W.
DOI: 10.1093/brain/aww261
2017

A scan without evidence is not evidence of absence: Scans without evidence of dopaminergic deficit in a symptomatic leucine-rich repeat kinase 2 mutation carrier
Movement Disorders
Wile, D.J. and Dinelle, K. and Vafai, N. and Mckenzie, J. and Tsui, J.K. and Schaffer, P. and Ding, Y.-S. and Farrer, M. and Sossi, V. and Stoessl, A.J.
DOI: 10.1002/mds.26450
2016

DCTN1 p.K56R in progressive supranuclear palsy
Parkinsonism and Related Disorders
Gustavsson, E.K. and Trinh, J. and Guella, I. and Szu-Tu, C. and Khinda, J. and Lin, C.-H. and Wu, R.-M. and Stoessl, J. and Appel-Cresswell, S. and McKeown, M. and Rajput, A. and Rajput, A.H. and Petersen, M.S. and Jeon, B.S. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1016/j.parkreldis.2016.04.025
2016

a-synuclein genetic variability: A biomarker for dementia in Parkinson disease
Annals of Neurology
Guella, I. and Evans, D.M. and Szu-Tu, C. and Nosova, E. and Bortnick, S.F. and Goldman, J.G. and Dalrymple-Alford, J.C. and Geurtsen, G.J. and Litvan, I. and Ross, O.A. and Middleton, L.T. and Parkkinen, L. and Farrer, M.J.
DOI: 10.1002/ana.24664
2016

Conjugal parkinsonism is coincidental
Parkinsonism and Related Disorders
Rajput, A.H. and Ferguson, L.W. and Robinson, C.A. and Guella, I. and Farrer, M.J. and Rajput, A.
DOI: 10.1016/j.parkreldis.2016.10.004
2016

Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3ß activity
Human Molecular Genetics
Lin, C.-H. and Lin, H.-I. and Chen, M.-L. and Lai, T.-T. and Cao, L.-P. and Farrer, M.J. and Wu, R.-M. and Chien, C.-T.
DOI: 10.1093/hmg/ddw068
2016

Leucine-rich repeat kinase 2 (LRRK2) regulates a-synuclein clearance in microglia
BMC Neuroscience
Maekawa, T. and Sasaoka, T. and Azuma, S. and Ichikawa, T. and Melrose, H.L. and Farrer, M.J. and Obata, F.
DOI: 10.1186/s12868-016-0315-2
2016

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study
The Lancet Neurology
Trinh, J., Gustavsson, E.K., Vilariño-Güell, C., Bortnick, S., Latourelle, J., McKenzie, M.B., Tu, C.S., Nosova, E., Khinda, J., Milnerwood, A., Lesage, S., Brice, A., Tazir, M., Aasly, J.O., Parkkinen, L., Haytural, H., Foroud, T., Myers, R.H., Sassi, S.B., Hentati, E., Nabli, F., Farhat, E., Amouri, R., Hentati, F., Farrer, M.J.
DOI: 10.1016/S1474-4422(16)30203-4
2016

Conjugal parkinsonism – Clinical, pathology and genetic study. No evidence of person-to-person transmission
Parkinsonism and Related Disorders
Rajput, A.H. and Ferguson, L.W. and Robinson, C.A. and Guella, I. and Farrer, M.J. and Rajput, A.
DOI: 10.1016/j.parkreldis.2016.07.011
2016

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease
Movement Disorders
Carr, J. and Guella, I. and Szu-Tu, C. and Boolay, S. and Glanzmann, B. and Farrer, M.J. and Bardien, S.
DOI: 10.1002/mds.26524
2016

Leucine-rich repeat kinase 2 is a regulator of B cell function, affecting homeostasis, BCR signaling, IgA production, and TI antigen responses
Journal of Neuroimmunology
Kubo, M. and Nagashima, R. and Ohta, E. and Maekawa, T. and Isobe, Y. and Kurihara, M. and Eshima, K. and Iwabuchi, K. and Sasaoka, T. and Azuma, S. and Melrose, H.L. and Farrer, M.J. and Obata, F.
DOI: 10.1016/j.jneuroim.2016.01.005
2016

Chronic and acute LRRK2 silencing has no long-term behavioral effects, whereas wild-type and mutant LRRK2 overexpression induce motor and cognitive deficits and altered regulation of dopamine release
Parkinsonism and Related Disorders
Volta, M. and Cataldi, S. and Beccano-Kelly, D. and Munsie, L. and Tatarnikov, I. and Chou, P. and Bergeron, S. and Mitchell, E. and Lim, R. and Khinda, J. and Lloret, A. and Bennett, C. and Paradiso, C. and Morari, M. and Farrer, M.J. and Milnerwood, A.J.
DOI: 10.1016/j.parkreldis.2015.07.025
2015

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Neurology
Wang, L., Aasly, J.O., Annesi, G., Bardien, S., Bozi, M., Brice, A., Carr, J., Chung, S.J., Clarke, C., Crosiers, D., Deutschländer, A., Eckstein, G., Farrer, M.J., Goldwurm, S., Garraux, G., Hadjigeorgiou, G.M., Hicks, A.A., Hattori, N., Klein, C., Jeon, B., Kim, Y.J., Lesage, S., Lin, J.-J., Lynch, T., Lichtner, P., Lang, A.E., Mok, V., Jasinska-Myga, B., Mellick, G.D., Morrison, K.E., Opala, G., PihlstrØm, L., Pramstaller, P.P., Park, S.S., Quattrone, A., Rogaeva, E., Ross, O.A., Stefanis, L., Stockton, J.D., Silburn, P.A., Theuns, J., Tan, E.K., Tomiyama, H., Toft, M., Van Broeckhoven, C., Uitti, R.J., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Yueh, K.-C., Zhao, Y., Gasser, T., Maraganore, D.M., Krüger, R., Sharma, M.
DOI: 10.1212/WNL.0000000000002016
2015

[<sup>11</sup>C] PBR28 PET imaging is sensitive to neuroinflammation in the aged rat
Journal of Cerebral Blood Flow and Metabolism
Walker, M.D. and Dinelle, K. and Kornelsen, R. and Lee, N.V. and Miao, Q. and Adam, M. and Takhar, C. and Mak, E. and Schulzer, M. and Farrer, M.J. and Sossi, V.
DOI: 10.1038/jcbfm.2015.54
2015

Parkinsonism in GTP cyclohydrolase 1 mutation carriers
Brain
Guella, I. and Sherman, H.E. and Appel-Cresswell, S. and Rajput, A. and Rajput, A.H. and Farrer, M.J.
DOI: 10.1093/brain/awu341
2015

Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice
Neurobiology of Disease
Yue, M. and Hinkle, K.M. and Davies, P. and Trushina, E. and Fiesel, F.C. and Christenson, T.A. and Schroeder, A.S. and Zhang, L. and Bowles, E. and Behrouz, B. and Lincoln, S.J. and Beevers, J.E. and Milnerwood, A.J. and Kurti, A. and McLean, P.J. and Fryer, J.D. and Springer, W. and Dickson, D.W. and Farrer, M.J. and Melrose, H.L.
DOI: 10.1016/j.nbd.2015.02.031
2015

Head injury, a-synuclein genetic variability and Parkinson's disease
European Journal of Neurology
Lee, P.C. and Bordelon, Y. and Bronstein, J. and Sinsheimer, J.S. and Farrer, M. and Ritz, B.
DOI: 10.1111/ene.12585
2015

Motor phenotype of LRRK2-associated Parkinson's disease: A tunisian longitudinal study
Movement Disorders
Nabli, F. and Ben Sassi, S. and Amouri, R. and Duda, J.E. and Farrer, M.J. and Hentati, F.
DOI: 10.1002/mds.26097
2015

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N
Human Molecular Genetics
Munsie, L.N. and Milnerwood, A.J. and Seibler, P. and Beccano-Kelly, D.A. and Tatarnikov, I. and Khinda, J. and Volta, M. and Kadgien, C. and Cao, L.P. and Tapia, L. and Klein, C. and Farrer, M.J.
DOI: 10.1093/hmg/ddu582
2015

LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory
Human Molecular Genetics
Beccano-Kelly, D.A. and Volta, M. and A.Munsie, L.N. and Paschall, S.A. and Tatarnikov, I. and Co, K. and Chou, P. and Cao, L.-P. and Bergeron, S. and Mitchell, E. and Han, H. and Melrose, H.L. and Tapia, L. and Raymond, L.A. and A.Farrer, M.J. and Milnerwood, A.J.
DOI: 10.1093/hmg/ddu543
2015

Novel LRRK2 mutations in Parkinsonism
Parkinsonism and Related Disorders
Trinh, J. and Guella, I. and McKenzie, M. and Gustavsson, E.K. and Szu-Tu, C. and Petersen, M.S. and Rajput, A. and Rajput, A.H. and McKeown, M. and Jeon, B.S. and Aasly, J.O. and Bardien, S. and Farrer, M.J.
DOI: 10.1016/j.parkreldis.2015.07.011
2015

Parkinson's disease, genetic variability and the Faroe Islands
Parkinsonism and Related Disorders
Petersen, M.S. and Guella, I. and Bech, S. and Gustavsson, E. and Farrer, M.J.
DOI: 10.1016/j.parkreldis.2014.10.027
2015

DNAJC13 genetic variants in parkinsonism
Movement Disorders
Gustavsson, E.K., Trinh, J., Guella, I., Vilariño-Güell, C., Appel-Cresswell, S., Stoessl, A.J., Tsui, J.K., Mckeown, M., Rajput, A., Rajput, A.H., Aasly, J.O., Farrer, M.J.
DOI: 10.1002/mds.26064
2015

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
European Journal of Neurology
Lorenzo-Betancor, O., Ogaki, K., Soto-Ortolaza, A.I., Labbe, C., Walton, R.L., Strongosky, A.J., van Gerpen, J.A., Uitti, R.J., Mclean, P.J., Springer, W., Siuda, J., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Czyzewski, K., Mccarthy, A., Lynch, T., Puschmann, A., Rektorova, I., Sanotsky, Y., Vilariño-Güell, C., Farrer, M.J., Ferman, T.J., Boeve, B.F., Petersen, R.C., Parisi, J.E., Graff-Radford, N.R., Dickson, D.W., Wszolek, Z.K., Ross, O.A.
DOI: 10.1111/ene.12770
2015

Familial aggregation of Parkinson's disease in the Faroe Islands
Movement Disorders
Petersen, M.S. and Bech, S. and Nosova, E. and Aasly, J. and Farrer, M.J.
DOI: 10.1002/mds.26132
2015

Genetic variability of the retromer cargo recognition complex in parkinsonism
Movement Disorders
Gustavsson, E.K. and Guella, I. and Trinh, J. and Szu-Tu, C. and Rajput, A. and Rajput, A.H. and Steele, J.C. and Mckeown, M. and Jeon, B.S. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1002/mds.26104
2015

Defining neurodegeneration on Guam by targeted genomic sequencing
Annals of Neurology
Steele, J.C., Guella, I., Szu-Tu, C., Lin, M.K., Thompson, C., Evans, D.M., Sherman, H.E., Vilariño-Güell, C., Gwinn, K., Morris, H., Dickson, D.W., Farrer, M.J.
DOI: 10.1002/ana.24346
2015

Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson's disease
The Lancet Neurology
Volta, M. and Milnerwood, A.J. and Farrer, M.J.
DOI: 10.1016/S1474-4422(15)00186-6
2015

A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy
Movement Disorders
Araki, E. and Tsuboi, Y. and Daechsel, J. and Milnerwood, A. and Vilarino-Guell, C. and Fujii, N. and Mishima, T. and Oka, T. and Hara, H. and Fukae, J. and Farrer, M.J.
DOI: 10.1002/mds.25833
2014

A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism
Neurobiology of Aging
Trinh, J., Amouri, R., Duda, J.E., Morley, J.F., Read, M., Donald, A., Vilariño-Güell, C., Thompson, C., Szu Tu, C., Gustavsson, E.K., Ben Sassi, S., Hentati, E., Zouari, M., Farhat, E., Nabli, F., Hentati, F., Farrer, M.J.
DOI: 10.1016/j.neurobiolaging.2013.11.015
2014

Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism
Movement Disorders
Appel-Cresswell, S., Rajput, A.H., Sossi, V., Thompson, C., Silva, V., Mckenzie, J., Dinelle, K., Mccormick, S.E., Vilariño-Güell, C., Stoessl, A.J., Dickson, D.W., Robinson, C.A., Farrer, M.J., Rajput, A.
DOI: 10.1002/mds.26019
2014

Identification of FUS p.R377W in essential tremor
European Journal of Neurology
Rajput, A., Rajput, A.H., Rajput, M.L., Encarnacion, M., Bernales, C.Q., Ross, J.P., Farrer, M.J., Vilariño-Güell, C.
DOI: 10.1111/ene.12231
2014

Michael J. Fox Foundation LRRK2 Consortium: Geographical differences in returning genetic research data to study participants
Genetics in Medicine
Alcalay, R.N., Aasly, J., Berg, D., Bressman, S., Brice, A., Brockmann, K., Chan, P., Clark, L., Cormier, F., Corvol, J.-C., Durr, A., Facheris, M., Farrer, M., Foroud, T.M., Gasser, T., Giladi, N., Halter, C., Lang, A., Langston, J.W., Marras, C., Marti-Masso, J.-F., Ruiz Martinez, J., Mejia-Santana, H., Mirelman, A., Pont-Sunyer, C., Orr-Urtreger, A., Raymond, D., Saunders-Pullman, R., Schüle, B., Tanner, C., Tolosa, E., Urkowitz, A., Vilas, D., Wise, A., Marder, K.
DOI: 10.1038/gim.2014.55
2014

Genetics and genomics of Parkinson's disease
Genome Medicine
Lin, M.K. and Farrer, M.J.
DOI: 10.1186/gm566
2014

Mutant COQ2 in multiple-system atrophy [3]
New England Journal of Medicine
Jeon, B.S. and Farrer, M.J. and Bortnick, S.F.
DOI: 10.1056/NEJMc1311763
2014

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population
European Journal of Neurology
Trinh, J., Gustavsson, E.K., Guella, I., Vilariño-Güell, C., Evans, D., Encarnacion, M., Sherman, H., Hentati, F., Farrer, M.J.
DOI: 10.1111/ene.12489
2014

Does a-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson's disease?
Parkinsonism and Related Disorders
Markopoulou, K. and Biernacka, J.M. and Armasu, S.M. and Anderson, K.J. and Ahlskog, J.E. and Chase, B.A. and Chung, S.J. and Cunningham, J.M. and Farrer, M. and Frigerio, R. and Maraganore, D.M.
DOI: 10.1016/j.parkreldis.2014.02.021
2014

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers
Movement Disorders
Felicio, A.C. and Dinelle, K. and Agarwal, P.A. and Mckenzie, J. and Heffernan, N. and Road, J.D. and Appel-Cresswell, S. and Wszolek, Z.K. and Farrer, M.J. and Schulzer, M. and Sossi, V. and Stoessl, A.J.
DOI: 10.1002/mds.25893
2014

Disease penetrance of late-onset parkinsonism: A meta-analysis
JAMA Neurology
Trinh, J. and Guella, I. and Farrer, M.J.
DOI: 10.1001/jamaneurol.2014.1909
2014

LRRK2 exonic variants and risk of multiple system atrophy
Neurology
Heckman, M.G. and Schottlaender, L. and Soto-Ortolaza, A.I. and Diehl, N.N. and Rayaprolu, S. and Ogaki, K. and Fujioka, S. and Murray, M.E. and Cheshire, W.P. and Uitti, R.J. and Wszolek, Z.K. and Farrer, M.J. and Sailer, A. and Singleton, A.B. and Chinnery, P.F. and Keogh, M.J. and Gentleman, S.M. and Holton, J.L. and Aoife, K. and Mann, D.M.A. and Al-Sarraj, S. and Troakes, C. and Dickson, D.W. and Houlden, H. and Ross, O.A.
2014

The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
Neurobiology of Aging
Heckman, M.G., Elbaz, A., Soto-Ortolaza, A.I., Serie, D.J., Aasly, J.O., Annesi, G., Auburger, G., Bacon, J.A., Boczarska-Jedynak, M., Bozi, M., Brighina, L., Chartier-Harlin, M.-C., Dardiotis, E., Destée, A., Ferrarese, C., Ferraris, A., Fiske, B., Gispert, S., Hadjigeorgiou, G.M., Hattori, N., Ioannidis, J.P.A., Jasinska-Myga, B., Jeon, B.S., Kim, Y.J., Klein, C., Kruger, R., Kyratzi, E., Lin, C.-H., Lohmann, K., Loriot, M.-A., Lynch, T., Mellick, G.D., Mutez, E., Opala, G., Park, S.S., Petrucci, S., Quattrone, A., Sharma, M., Silburn, P.A., Sohn, Y.H., Stefanis, L., Tadic, V., Tomiyama, H., Uitti, R.J., Valente, E.M., Vassilatis, D.K., Vilariño-Güell, C., White, L.R., Wirdefeldt, K., Wszolek, Z.K., Wu, R.-M., Xiromerisiou, G., Maraganore, D.M., Farrer, M.J., Ross, O.A.
DOI: 10.1016/j.neurobiolaging.2013.07.013
2014

DNAJC13 mutations in Parkinson disease
Human molecular genetics
Vilariño-Güell, C., Rajput, A., Milnerwood, A.J., Shah, B., Szu-Tu, C., Trinh, J., Yu, I., Encarnacion, M., Munsie, L.N., Tapia, L., Gustavsson, E.K., Chou, P., Tatarnikov, I., Evans, D.M., Pishotta, F.T., Volta, M., Beccano-Kelly, D., Thompson, C., Lin, M.K., Sherman, H.E., Han, H.J., Guenther, B.L., Wasserman, W.W., Bernard, V., Ross, C.J., Appel-Cresswell, S., Stoessl, A.J., Robinson, C.A., Dickson, D.W., Ross, O.A., Wszolek, Z.K., Aasly, J.O., Wu, R.-M., Hentati, F., Gibson, R.A., McPherson, P.S., Girard, M., Rajput, M., Rajput, A.H., Farrer, M.J.
DOI: 10.1093/hmg/ddt570
2014

Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging
Journal of Parkinson's disease
Walker, M.D. and Volta, M. and Cataldi, S. and Dinelle, K. and Beccano-Kelly, D. and Munsie, L. and Kornelsen, R. and Mah, C. and Chou, P. and Co, K. and Khinda, J. and Mroczek, M. and Bergeron, S. and Yu, K. and Cao, L.P. and Funk, N. and Ott, T. and Galter, D. and Riess, O. and Biskup, S. and Milnerwood, A.J. and Stoessl, A.J. and Farrer, M.J. and Sossi, V.
DOI: 10.3233/JPD-140344
2014

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population
Parkinsonism and Related Disorders
Nishioka, K., Funayama, M., Vilariño-Güell, C., Ogaki, K., Li, Y., Sasaki, R., Kokubo, Y., Kuzuhara, S., Kachergus, J.M., Cobb, S.A., Takahashi, H., Mizuno, Y., Farrer, M.J., Ross, O.A., Hattori, N.
DOI: 10.1016/j.parkreldis.2014.03.004
2014

Synaptic function is modulated by LRRK2 and glutamate release is increased in cortical neurons of G2019S LRRK2 knock-in mice
Frontiers in Cellular Neuroscience
Beccano-Kelly, D.A. and Kuhlmann, N. and Tatarnikov, I. and Volta, M. and Munsie, L.N. and Chou, P. and Cao, L.-P. and Han, H. and Tapia, L. and Farrer, M.J. and Milnerwood, A.J.
DOI: 10.3389/fncel.2014.00301
2014

LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance
Neurology
Hentati, F. and Trinh, J. and Thompson, C. and Nosova, E. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1212/WNL.0000000000000675
2014

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia
Acta Neuropathologica
Fujioka, S., Sundal, C., Strongosky, A.J., Castanedes, M.C., Rademakers, R., Ross, O.A., Vilariño-Güell, C., Farrer, M.J., Wszolek, Z.K., Dickson, D.W.
DOI: 10.1007/s00401-012-1059-4
2013

Insights into LRRK2-Mutation Related PD from PET Imaging Studies
Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012
Sossi, V. and Agarwal, P. and Mckenzie, J. and Dinelle, K. and Schulzer, M. and Aasly, J. and Wszolek, Z. and Farrer, M. and Stoessl, A.J.
DOI: 10.1016/B978-0-12-800044-1.00106-9
2013

The genetics of Parkinson's disease: Progress and therapeutic implications
Movement Disorders
Singleton, A.B. and Farrer, M.J. and Bonifati, V.
DOI: 10.1002/mds.25249
2013

LRRK2 phosphorylates novel tau epitopes and promotes tauopathy
Acta Neuropathologica
Bailey, R.M. and Covy, J.P. and Melrose, H.L. and Rousseau, L. and Watkinson, R. and Knight, J. and Miles, S. and Farrer, M.J. and Dickson, D.W. and Giasson, B.I. and Lewis, J.
DOI: 10.1007/s00401-013-1188-4
2013

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Movement Disorders
Appel-Cresswell, S. and Vilarino-Guell, C. and Encarnacion, M. and Sherman, H. and Yu, I. and Shah, B. and Weir, D. and Thompson, C. and Szu-Tu, C. and Trinh, J. and Aasly, J.O. and Rajput, A. and Rajput, A.H. and Jon Stoessl, A. and Farrer, M.J.
DOI: 10.1002/mds.25421
2013

STX6 rs1411478 is not associated with increased risk of Parkinson's disease
Parkinsonism and Related Disorders
Trinh, J., Vilariño-Güell, C., Donald, A., Shah, B., Yu, I., Szu-Tu, C., Aasly, J.O., Wu, R.-M., Hentati, F., Rajput, A.H., Rajput, A., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2013.01.019
2013

Advances in the genetics of Parkinson disease
Nature Reviews Neurology
Trinh, J. and Farrer, M.
DOI: 10.1038/nrneurol.2013.132
2013

Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients
Movement Disorders
Bardien, S. and Blanckenberg, J. and van der Merwe, L. and Farrer, M.J. and Ross, O.A.
DOI: 10.1002/mds.25637
2013

Measuring dopaminergic function in the 6-OHDA-lesioned rat: A comparison of PET and microdialysis
EJNMMI Research
Walker, M.D. and Dinelle, K. and Kornelsen, R. and Lee, A. and Farrer, M.J. and Stoessl, A.J. and Sossi, V.
DOI: 10.1186/2191-219X-3-69
2013

In-vivo measurement of LDOPA uptake, dopamine reserve and turnover in the rat brain using [18F]FDOPA PET
Journal of Cerebral Blood Flow and Metabolism
Walker, M.D. and Dinelle, K. and Kornelsen, R. and McCormick, S. and Mah, C. and Holden, J.E. and Farrer, M.J. and Stoessl, A.J. and Sossi, V.
DOI: 10.1038/jcbfm.2012.120
2013

Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium
Movement Disorders
Heckman, M.G., Soto-Ortolaza, A.I., Aasly, J.O., Abahuni, N., Annesi, G., Bacon, J.A., Bardien, S., Bozi, M., Brice, A., Brighina, L., Carr, J., Chartier-Harlin, M.-C., Dardiotis, E., Dickson, D.W., Diehl, N.N., Elbaz, A., Ferrarese, C., Fiske, B., Gibson, J.M., Gibson, R., Hadjigeorgiou, G.M., Hattori, N., Ioannidis, J.P.A., Boczarska-Jedynak, M., Jasinska-Myga, B., Jeon, B.S., Kim, Y.J., Klein, C., Kruger, R., Kyratzi, E., Lesage, S., Lin, C.-H., Lynch, T., Maraganore, D.M., Mellick, G.D., Mutez, E., Nilsson, C., Opala, G., Park, S.S., Petrucci, S., Puschmann, A., Quattrone, A., Sharma, M., Silburn, P.A., Sohn, Y.H., Stefanis, L., Tadic, V., Theuns, J., Tomiyama, H., Uitti, R.J., Valente, E.M., Van Broeckhoven, C., Van De Loo, S., Vassilatis, D.K., Vilariño-Güell, C., White, L.R., Wirdefeldt, K., Wszolek, Z.K., Wu, R.-M., Hentati, F., Farrer, M.J., Ross, O.A.
DOI: 10.1002/mds.25600
2013

Measurements of Dopaminergic Function in the Rat Brain Using [18F]FDOPA PET and Microdialysis
Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 2012
Walker, M.D. and Dinelle, K. and Kornelsen, R. and McCormick, S. and Mah, C. and Lee, A. and Holden, J.E. and Farrer, M.J. and Stoessl, A.J. and Sossi, V.
DOI: 10.1016/B978-0-12-800044-1.00144-6
2013

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology
Journal of Neurology, Neurosurgery and Psychiatry
Wider, C., Ross, O.A., Nishioka, K., Heckman, M.G., Vilariño-Güell, C., Jasinska-Myga, B., Erketin-Taner, N., Rademakers, R., Graff-Radford, N.R., Mash, D.C., Papapetropoulos, S., Duara, R., Uchikado, H., Wszolek, Z.K., Farrer, M.J., Dickson, D.W.
DOI: 10.1136/jnnp-2011-301413
2012

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation
Parkinsonism and Related Disorders
Puschmann, A., Englund, E., Ross, O.A., Vilariño-Güell, C., Lincoln, S.J., Kachergus, J.M., Cobb, S.A., Törnqvist, A.-L., Rehncrona, S., Widner, H., Wszolek, Z.K., Farrer, M.J., Nilsson, C.
DOI: 10.1016/j.parkreldis.2011.11.019
2012

LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors
Molecular Neurodegeneration
Hinkle, K.M., Yue, M., Behrouz, B., Dächsel, J.C., Lincoln, S.J., Bowles, E.E., Beevers, J.E., Dugger, B., Winner, B., Prots, I., Kent, C.B., Nishioka, K., Lin, W.-L., Dickson, D.W., Janus, C.J., Farrer, M.J., Melrose, H.L.
DOI: 10.1186/1750-1326-7-25
2012

Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease
Parkinsonism and Related Disorders
Ben Sassi, S. and Nabli, F. and Hentati, E. and Nahdi, H. and Trabelsi, M. and Ben Ayed, H. and Amouri, R. and Duda, J.E. and Farrer, M.J. and Hentati, F.
DOI: 10.1016/j.parkreldis.2011.10.009
2012

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Journal of Medical Genetics
Sharma, M., Ioannidis, J.P.A., Aasly, J.O., Annesi, G., Brice, A., Bertram, L., Bozi, M., Barcikowska, M., Crosiers, D., Clarke, C.E., Facheris, M.F., Farrer, M., Garraux, G., Gispert, S., Auburger, G., Vilariño-Güell, C., Hadjigeorgiou, G.M., Hicks, A.A., Hattori, N., Jeon, B.S., Jamrozik, Z., Krygowska-Wajs, A., Lesage, S., Lill, C.M., Lin, J.-J., Lynch, T., Lichtner, P., Lang, A.E., Libioulle, C., Murata, M., Mok, V., Jasinska-Myga, B., Mellick, G.D., Morrison, K.E., Meitnger, T., Zimprich, A., Opala, G., Pramstaller, P.P., Pichler, I., Park, S.S., Quattrone, A., Rogaeva, E., Ross, O.A., Stefanis, L., Stockton, J.D., Satake, W., Silburn, P.A., Strom, T.M., Theuns, J., Tan, E.K., Toda, T., Tomiyama, H., Uitti, R.J., Van Broeckhoven, C., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Yomono, H.S., Yueh, K.-C., Zhao, Y., Gasser, T., Maraganore, D., Krüger, R.
DOI: 10.1136/jmedgenet-2012-101155
2012

PARK2 variability in Polish Parkinson's disease patients - interaction with mitochondrial haplogroups
Parkinsonism and Related Disorders
Gaweda-Walerych, K. and Safranow, K. and Jasinska-Myga, B. and Bialecka, M. and Klodowska-Duda, G. and Rudzinska, M. and Czyzewski, K. and Cobb, S.A. and Slawek, J. and Styczynska, M. and Opala, G. and Drozdzik, M. and Nishioka, K. and Farrer, M.J. and Ross, O.A. and Wszolek, Z.K. and Barcikowska, M. and Zekanowski, C.
DOI: 10.1016/j.parkreldis.2012.01.021
2012

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: A case control study
BMC Medical Genetics
Potts, L.F. and Cambon, A.C. and Ross, O.A. and Rademakers, R. and Dickson, D.W. and Uitti, R.J. and Wszolek, Z.K. and Rai, S.N. and Farrer, M.J. and Hein, D.W. and Litvan, I.
DOI: 10.1186/1471-2350-13-16
2012

Large-scale replication and heterogeneity in Parkinson disease genetic loci
Neurology
Sharma, M., Ioannidis, J.P.A., Aasly, J.O., Annesi, G., Brice, A., Van Broeckhoven, C., Bertram, L., Bozi, M., Crosiers, D., Clarke, C., Facheris, M., Farrer, M., Garraux, G., Gispert, S., Auburger, G., Vilariño-Güell, C., Hadjigeorgiou, G.M., Hicks, A.A., Hattori, N., Jeon, B., Lesage, S., Lill, C.M., Lin, J.-J., Lynch, T., Lichtner, P., Lang, A.E., Mok, V., Jasinska-Myga, B., Mellick, G.D., Morrison, K.E., Opala, G., Pramstaller, P.P., Pichler, I., Park, S.S., Quattrone, A., Rogaeva, E., Ross, O.A., Stefanis, L., Stockton, J.D., Satake, W., Silburn, P.A., Theuns, J., Tan, E.-K., Toda, T., Tomiyama, H., Uitti, R.J., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Yueh, K.-C., Zhao, Y., Gasser, T., Maraganore, D., Krüger, R.
DOI: 10.1212/WNL.0b013e318264e353
2012

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database
PLoS Genetics
Lill, C.M. and Roehr, J.T. and McQueen, M.B. and Kavvoura, F.K. and Bagade, S. and Schjeide, B.-M.M. and Schjeide, L.M. and Meissner, E. and Zauft, U. and Allen, N.C. and Liu, T. and Schilling, M. and Anderson, K.J. and Beecham, G. and Berg, D. and Biernacka, J.M. and Brice, A. and DeStefano, A.L. and Do, C.B. and Eriksson, N. and Factor, S.A. and Farrer, M.J. and Foroud, T. and Gasser, T. and Hamza, T. and Hardy, J.A. and Heutink, P. and Hill-Burns, E.M. and Klein, C. and Latourelle, J.C. and Maraganore, D.M. and Martin, E.R. and Martinez, M. and Myers, R.H. and Nalls, M.A. and Pankratz, N. and Payami, H. and Satake, W. and Scott, W.K. and Sharma, M. and Singleton, A.B. and Stefansson, K. and Toda, T. and Tung, J.Y. and Vance, J. and Wood, N.W. and Zabetian, C.P. and Young, P. and Tanzi, R.E. and Khoury, M.J. and Zipp, F. and Lehrach, H. and Ioannidis, J.P.A. and Bertram, L.
DOI: 10.1371/journal.pgen.1002548
2012

Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death
Human Mutation
Angeles, D.C. and Gan, B.-H. and Onstead, L. and Zhao, Y. and Lim, K.-L. and Dachsel, J. and Melrose, H. and Farrer, M. and Wszolek, Z.K. and Dickson, D.W. and Tan, E.-K.
DOI: 10.1002/humu.21582
2011

Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice
Neurobiology of Disease
Winner, B. and Melrose, H.L. and Zhao, C. and Hinkle, K.M. and Yue, M. and Kent, C. and Braithwaite, A.T. and Ogholikhan, S. and Aigner, R. and Winkler, J. and Farrer, M.J. and Gage, F.H.
DOI: 10.1016/j.nbd.2010.12.008
2011

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
Annals of Neurology
Elbaz, A., Ross, O.A., Ioannidis, J.P.A., Soto-Ortolaza, A.I., Moisan, F., Aasly, J., Annesi, G., Bozi, M., Brighina, L., Chartier-Harlin, M.-C., Destée, A., Ferrarese, C., Ferraris, A., Gibson, J.M., Gispert, S., Hadjigeorgiou, G.M., Jasinska-Myga, B., Klein, C., Krüger, R., Lambert, J.-C., Lohmann, K., Van De Loo, S., Loriot, M.-A., Lynch, T., Mellick, G.D., Mutez, E., Nilsson, C., Opala, G., Puschmann, A., Quattrone, A., Sharma, M., Silburn, P.A., Stefanis, L., Uitti, R.J., Valente, E.M., Vilariño-Güell, C., Wirdefeldt, K., Wszolek, Z.K., Xiromerisiou, G., Maraganore, D.M., Farrer, M.J.
DOI: 10.1002/ana.22321
2011

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease
Human Molecular Genetics
Shi, G. and Lee, J.R. and Grimes, D.A. and Racacho, L. and Ye, D. and Yang, H. and Ross, O.A. and Farrer, M. and McQuibban, G.A. and Bulman, D.E.
DOI: 10.1093/hmg/ddr077
2011

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: A case-control study
The Lancet Neurology
Ross, O.A., Soto-Ortolaza, A.I., Heckman, M.G., Aasly, J.O., Abahuni, N., Annesi, G., Bacon, J.A., Bardien, S., Bozi, M., Brice, A., Brighina, L., Van Broeckhoven, C., Carr, J., Chartier-Harlin, M.-C., Dardiotis, E., Dickson, D.W., Diehl, N.N., Elbaz, A., Ferrarese, C., Ferraris, A., Fiske, B., Gibson, J.M., Gibson, R., Hadjigeorgiou, G.M., Hattori, N., Ioannidis, J.P.A., Jasinska-Myga, B., Jeon, B.S., Kim, Y.J., Klein, C., Kruger, R., Kyratzi, E., Lesage, S., Lin, C.-H., Lynch, T., Maraganore, D.M., Mellick, G.D., Mutez, E., Nilsson, C., Opala, G., Park, S.S., Puschmann, A., Quattrone, A., Sharma, M., Silburn, P.A., Sohn, Y.H., Stefanis, L., Tadic, V., Theuns, J., Tomiyama, H., Uitti, R.J., Valente, E.M., van de Loo, S., Vassilatis, D.K., Vilariño-Güell, C., White, L.R., Wirdefeldt, K., Wszolek, Z.K., Wu, R.-M., Farrer, M.J.
DOI: 10.1016/S1474-4422(11)70175-2
2011

Genetic variants of a-synuclein are not associated with essential tremor
Movement Disorders
Ross, O.A. and Conneely, K.N. and Wang, T. and Vilarino-Guell, C. and Soto-Ortolaza, A.I. and Rajput, A. and Wszolek, Z.K. and Uitti, R.J. and Louis, E.D. and Clark, L.N. and Farrer, M.J. and Testa, C.M.
DOI: 10.1002/mds.23909
2011

SNCA, MAPT, and GSK3B in Parkinson disease: A gene-gene interaction study
European Journal of Neurology
Wider, C., Vilariño-Güell, C., Heckman, M.G., Jasinska-Myga, B., Ortolaza-Soto, A.I., Diehl, N.N., Crook, J.E., Cobb, S.A., Bacon, J.A., Aasly, J.O., Gibson, J.M., Lynch, T., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Ross, O.A.
DOI: 10.1111/j.1468-1331.2010.03297.x
2011

Genome-Wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
PLoS Genetics
Winkelmann, J., Czamara, D., Schormair, B., Knauf, F., Schulte, E.C., Trenkwalder, C., Dauvilliers, Y., Polo, O., Högl, B., Berger, K., Fuhs, A., Gross, N., Stiasny-Kolster, K., Oertel, W., Bachmann, C.G., Paulus, W., Xiong, L., Montplaisir, J., Rouleau, G.A., Fietze, I., Vávrová, J., Kemlink, D., Sonka, K., Nevsimalova, S., Lin, S.-C., Wszolek, Z., Vilariño-Güell, C., Farrer, M.J., Gschliesser, V., Frauscher, B., Falkenstetter, T., Poewe, W., Allen, R.P., Earley, C.J., Ondo, W.G., Le, W.-D., Spieler, D., Kaffe, M., Zimprich, A., Kettunen, J., Perola, M., Silander, K., Cournu-Rebeix, I., Francavilla, M., Fontenille, C., Fontaine, B., Vodicka, P., Prokisch, H., Lichtner, P., Peppard, P., Faraco, J., Mignot, E., Gieger, C., Illig, T., Wichmann, H., Müller-Myhsok, B., Meitinger, T.
DOI: 10.1371/journal.pgen.1002171
2011

A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Neurology
Puschmann, A., Pfeiffer, R.F., Stoessl, A.J., Kuriakose, R., Lash, J.L., Searcy, J.A., Strongosky, A.J., Vilariño-Güell, C., Farrer, M.J., Ross, O.A., Dickson, D.W., Wszolek, Z.K.
DOI: 10.1212/WNL.0b013e318219fb42
2011

Parkinson-related genetics in patients treated with deep brain stimulation
Acta Neurologica Scandinavica
Johansen, K.K. and J?rgensen, J.V. and White, L.R. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1111/j.1600-0404.2010.01387.x
2011

VPS35 mutations in parkinson disease
American Journal of Human Genetics
Vilariño-Güell, C., Wider, C., Ross, O.A., Dachsel, J.C., Kachergus, J.M., Lincoln, S.J., Soto-Ortolaza, A.I., Cobb, S.A., Wilhoite, G.J., Bacon, J.A., Bahareh Behrouz, Melrose, H.L., Hentati, E., Puschmann, A., Evans, D.M., Conibear, E., Wasserman, W.W., Aasly, J.O., Burkhard, P.R., Djaldetti, R., Ghika, J., Hentati, F., Krygowska-Wajs, A., Lynch, T., Melamed, E., Rajput, A., Rajput, A.H., Solida, A., Wu, R.-M., Uitti, R.J., Wszolek, Z.K., Vingerhoets, F., Farrer, M.J.
DOI: 10.1016/j.ajhg.2011.06.001
2011

Death-associated protein kinase 1 variation and Parkinson's disease
European Journal of Neurology
Dachsel, J.C., Wider, C., Vilariño-Güell, C., Aasly, J.O., Rajput, A., Rajput, A.H., Lynch, T., Craig, D., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Czyzewski, K., Wu, R..-M., Heckman, M.G., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Ross, O.A.
DOI: 10.1111/j.1468-1331.2010.03255.x
2011

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy
Neurology
Vilariño-Güell, C., Soto-Ortolaza, A.I., Rajput, A., Mash, D.C., Papapetropoulos, S., Pahwa, R., Lyons, K.E., Uitti, R.J., Wszolek, Z.K., Dickson, D.W., Farrer, M.J., Ross, O.A.
DOI: 10.1212/WNL.0b013e31820c30c1
2011

Translation initiator EIF4G1 mutations in familial parkinson disease
American Journal of Human Genetics
Chartier-Harlin, M.-C., Dachsel, J.C., Vilariño-Güell, C., Lincoln, S.J., Leprêtre, F., Hulihan, M.M., Kachergus, J., Milnerwood, A.J., Tapia, L., Song, M.-S., Le Rhun, E., Mutez, E., Larvor, L., Duflot, A., Vanbesien-Mailliot, C., Kreisler, A., Ross, O.A., Nishioka, K., Soto-Ortolaza, A.I., Cobb, S.A., Melrose, H.L., Behrouz, B., Keeling, B.H., Bacon, J.A., Hentati, E., Williams, L., Yanagiya, A., Sonenberg, N., Lockhart, P.J., Zubair, A.C., Uitti, R.J., Aasly, J.O., Krygowska-Wajs, A., Opala, G., Wszolek, Z.K., Frigerio, R., Maraganore, D.M., Gosal, D., Lynch, T., Hutchinson, M., Bentivoglio, A.R., Valente, E.M., Nichols, W.C., Pankratz, N., Foroud, T., Gibson, R.A., Hentati, F., Dickson, D.W., Destée, A., Farrer, M.J.
DOI: 10.1016/j.ajhg.2011.08.009
2011

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
Neurobiology of Aging
Krüger, R., Sharma, M., Riess, O., Gasser, T., Van Broeckhoven, C., Theuns, J., Aasly, J., Annesi, G., Bentivoglio, A.R., Brice, A., Djarmati, A., Elbaz, A., Farrer, M., Ferrarese, C., Gibson, J.M., Hadjigeorgiou, G.M., Hattori, N., Ioannidis, J.P.A., Jasinska-Myga, B., Klein, C., Lambert, J.-C., Lesage, S., Lin, J.-J., Lynch, T., Mellick, G.D., de Nigris, F., Opala, G., Prigione, A., Quattrone, A., Ross, O.A., Satake, W., Silburn, P.A., Tan, E.K., Toda, T., Tomiyama, H., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Maraganore, D.M.
DOI: 10.1016/j.neurobiolaging.2009.11.021
2011

Glucocerebrosidase mutations in diffuse Lewy body disease
Parkinsonism and Related Disorders
Nishioka, K., Ross, O.A., Vilariño-Güell, C., Cobb, S.A., Kachergus, J.M., Mann, D.M.A., Snowden, J., Richardson, A.M.T., Neary, D., Robinson, C.A., Rajput, A., Papapetropoulos, S., Mash, D.C., Pahwa, R., Lyons, K.E., Wszolek, Z.K., Dickson, D.W., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2010.09.009
2011

Subclinical signs in LRRK2 mutation carriers
Parkinsonism and Related Disorders
Johansen, K.K. and White, L.R. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1016/j.parkreldis.2011.04.014
2011

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America
Parkinsonism and Related Disorders
Mata, I.F., Wilhoite, G.J., Yearout, D., Bacon, J.A., Cornejo-Olivas, M., Mazzetti, P., Marca, V., Ortega, O., Acosta, O., Cosentino, C., Torres, L., Medina, A.C., Perez-Pastene, C., Díaz-Grez, F., Vilariño-Güell, C., Venegas, P., Miranda, M., Trujillo-Godoy, O., Layson, L., Avello, R., Dieguez, E., Raggio, V., Micheli, F., Perandones, C., Alvarez, V., Segura-Aguilar, J., Farrer, M.J., Zabetian, C.P., Ross, O.A.
DOI: 10.1016/j.parkreldis.2011.05.003
2011

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
Neurobiology of Aging
Sharma, M., Maraganore, D.M., Ioannidis, J.P.A., Riess, O., Aasly, J.O., Annesi, G., Abahuni, N., Bentivoglio, A.R., Brice, A., Van Broeckhoven, C., Chartier-Harlin, M.-C., Destée, A., Djarmati, A., Elbaz, A., Farrer, M., Ferrarese, C., Gibson, J.M., Gispert, S., Hattori, N., Jasinska-Myga, B., Klein, C., Lesage, S., Lynch, T., Lichtner, P., Lambert, J.-C., Lang, A.E., Mellick, G.D., De Nigris, F., Opala, G., Quattrone, A., Riva, C., Rogaeva, E., Ross, O.A., Satake, W., Silburn, P.A., Theuns, J., Toda, T., Tomiyama, H., Uitti, R.J., Wirdefeldt, K., Wszolek, Z., Gasser, T., Krüger, R.
DOI: 10.1016/j.neurobiolaging.2011.05.024
2011

Common variants in PARK loci and related genes and Parkinson's disease
Movement Disorders
Chung, S.J. and Armasu, S.M. and Biernacka, J.M. and Lesnick, T.G. and Rider, D.N. and Lincoln, S.J. and Ortolaza, A.I. and Farrer, M.J. and Cunningham, J.M. and Rocca, W.A. and Maraganore, D.M.
DOI: 10.1002/mds.23376
2011

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Nature Genetics
Höglinger, G.U., Melhem, N.M., Dickson, D.W., Sleiman, P.M.A., Wang, L.-S., Klei, L., Rademakers, R., De Silva, R., Litvan, I., Riley, D.E., Van Swieten, J.C., Heutink, P., Wszolek, Z.K., Uitti, R.J., Vandrovcova, J., Hurtig, H.I., Gross, R.G., Maetzler, W., Goldwurm, S., Tolosa, E., Borroni, B., Pastor, P., Cantwell, L.B., Han, M.R., Dillman, A., Van Der Brug, M.P., Gibbs, J.R., Cookson, M.R., Hernandez, D.G., Singleton, A.B., Farrer, M.J., Yu, C.-E., Golbe, L.I., Revesz, T., Hardy, J., Lees, A.J., Devlin, B., Hakonarson, H., Müller, U., Schellenberg, G.D., Albin, R.L., Alonso, E., Antonini, A., Apfelbacher, M., Arnold, S.E., Avila, J., Beach, T.G., Beecher, S., Berg, D., Bird, T.D., Bogdanovic, N., Boon, A.J.W., Bordelon, Y., Brice, A., Budka, H., Canesi, M., Chiu, W.Z., Cilia, R., Colosimo, C., De Deyn, P.P., De Yebenes, J.G., Kaat, L.D., Duara, R., Durr, A., Engelborghs, S., Fabbrini, G., Finch, N.A., Flook, R., Frosch, M.P., Gaig, C., Galasko, D.R., Gasser, T., Gearing, M., Geller, E.T., Ghetti, B., Graff-Radford, N.R., Grossman, M., Hall, D.A., Hazrati, L.-N., Höllerhage, M., Jankovic, J., Juncos, J.L., Karydas, A., Kretzschmar, H.A., Leber, I., Lee, V.M., Lieberman, A.P., Lyons, K.E., Mariani, C., Masliah, E., Massey, L.A., McLean, C.A., Meucci, N., Miller, B.L., Mollenhauer, B., Möller, J.C., Morris, H.R., Morris, C., O'Sullivan, S.S., Oertel, W.H., Ottaviani, D., Padovani, A., Pahwa, R., Pezzoli, G., Pickering-Brown, S., Poewe, W., Rabano, A., Rajput, A., Reich, S.G., Respondek, G., Roeber, S., Rohrer, J.D., Ross, O.A., Rossor, M.N., Sacilotto, G., Seeley, W.W., Seppi, K., Silveira-Moriyama, L., Spina, S., Srulijes, K., St. George-Hyslop, P., Stamelou, M., Standaert, D.G., Tesei, S., Tourtellotte, W.W., Trenkwalder, C., Troakes, C., Trojanowski, J.Q., Troncoso, J.C., Van Deerlin, V.M., Vonsattel, J.P.G., Wenning, G.K., White, C.L., Winter, P., Zarow, C., Zecchinelli, A.L.
DOI: 10.1038/ng.859
2011

Call for participation in the neurogenetics consortium within the Human Variome Project
Neurogenetics
Haworth, A., Bertram, L., Carrera, P., Elson, J.L., Braastad, C.D., Cox, D.W., Cruts, M., Den Dunnen, J.T., Farrer, M.J., Fink, J.K., Hamed, S.A., Houlden, H., Johnson, D.R., Nuytemans, K., Palau, F., Rayan, D.L.R., Robinson, P.N., Salas, A., Schüle, B., Sweeney, M.G., Woods, M.O., Amigo, J., Cotton, R.G.H., Sobrido, M.-J.
DOI: 10.1007/s10048-011-0287-4
2011

Erratum: VPS35 mutations in Parkinson disease (American Journal of Human Genetics (2011) 89 (162-167))
American Journal of Human Genetics
Vilariño-Güell, C., Wider, C., Ross, O.A., Dachsel, J.C., Kachergus, J.M., Lincoln, S.J., Soto-Ortolaza, A.I., Cobb, S.A., Wilhoite, G.J., Bacon, J.A., Behrouz, B., Melrose, H.L., Hentati, E., Puschmann, A., Evans, D.M., Conibear, E., Wasserman, W.W., Aasly, J.O., Burkhard, P.R., Djaldetti, R., Ghika, J., Hentati, F., Krygowska-Wajs, A., Lynch, T., Melamed, E., Rajput, A., Rajput, A.H., Solida, A., Wu, R.-M., Uitti, R.J., Wszolek, Z.K., Vingerhoets, F., Farrer, M.J.
DOI: 10.1016/j.ajhg.2011.07.018
2011

Autonomic failures in Perry syndrome with DCTN1 mutation
Parkinsonism and Related Disorders
Ohshima, S. and Tsuboi, Y. and Yamamoto, A. and Kawakami, M. and Farrer, M.J. and Kira, J.-I. and Shii, H.
DOI: 10.1016/j.parkreldis.2010.07.001
2010

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
Neurogenetics
Vilariño-Güell, C., Wider, C., Ross, O.A., Jasinska-Myga, B., Kachergus, J., Cobb, S.A., Soto-Ortolaza, A.I., Behrouz, B., Heckman, M.G., Diehl, N.N., Testa, C.M., Wszolek, Z.K., Uitti, R.J., Jankovic, J., Louis, E.D., Clark, L.N., Rajput, A., Farrer, M.J.
DOI: 10.1007/s10048-010-0241-x
2010

Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice
Neurobiology of Disease
Melrose, H.L., Dächsel, J.C., Behrouz, B., Lincoln, S.J., Yue, M., Hinkle, K.M., Kent, C.B., Korvatska, E., Taylor, J.P., Witten, L., Liang, Y.-Q., Beevers, J.E., Boules, M., Dugger, B.N., Serna, V.A., Gaukhman, A., Yu, X., Castanedes-Casey, M., Braithwaite, A.T., Ogholikhan, S., Yu, N., Bass, D., Tyndall, G., Schellenberg, G.D., Dickson, D.W., Janus, C., Farrer, M.J.
DOI: 10.1016/j.nbd.2010.07.010
2010

Elucidating the genetics and pathology of Perry syndrome
Journal of the Neurological Sciences
Wider, C. and Dachsel, J.C. and Farrer, M.J. and Dickson, D.W. and Tsuboi, Y. and Wszolek, Z.K.
DOI: 10.1016/j.jns.2009.08.044
2010

Missing pieces in the Parkinson's disease puzzle
Nature Medicine
Obeso, J.A. and Rodriguez-Oroz, M.C. and Goetz, C.G. and Marin, C. and Kordower, J.H. and Rodriguez, M. and Hirsch, E.C. and Farrer, M. and Schapira, A.H.V. and Halliday, G.
DOI: 10.1038/nm.2165
2010

Calbindin-1 association and Parkinson's disease
European Journal of Neurology
Soto-Ortolaza, A.I., Behrouz, B., Wider, C., Vilariño-Güell, C., Heckman, M.G., Aasly, J.O., Mark Gibson, J., Lynch, T., Jasinska-Myga, B., Krygowska-Wajs, A., Opala, G., Barcikowska, M., Czyzewski, K., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Ross, O.A.
DOI: 10.1111/j.1468-1331.2009.02769.x
2010

A comparative study of Lrrk2 function in primary neuronal cultures
Parkinsonism and Related Disorders
Dächsel, J.C., Behrouz, B., Yue, M., Beevers, J.E., Melrose, H.L., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2010.08.018
2010

a-synuclein suppression by targeted small interfering rna in the primate substantia nigra
PLoS ONE
McCormack, A.L. and Mak, S.K. and Henderson, J.M. and Bumcrot, D. and Farrer, M.J. and Di Monte, D.A.
DOI: 10.1371/journal.pone.0012122
2010

Association of the MAPT locus with Parkinson's disease
European Journal of Neurology
Wider, C., Vilariño-Güell, C., Jasinska-Myga, B., Heckman, M.G., Soto-Ortolaza, A.I., Cobb, S.A., Aasly, J.O., Gibson, J.M., Lynch, T., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Ross, O.A.
DOI: 10.1111/j.1468-1331.2009.02847.x
2010

Association of a-, ß-, and ¿-synuclein with diffuse lewy body disease
Archives of Neurology
Nishioka, K., Wider, C., Vilariño-Güell, C., Soto-Ortolaza, A.I., Lincoln, S.J., Kachergus, J.M., Jasinska-Myga, B., Ross, O.A., Rajput, A., Robinson, C.A., Ferman, T.J., Wszolek, Z.K., Dickson, D.W., Farrer, M.J.
DOI: 10.1001/archneurol.2010.177
2010

Genealogical studies in LRRK2-associated Parkinson's disease in central Norway
Parkinsonism and Related Disorders
Johansen, K.K. and Hasselberg, K. and White, L.R. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1016/j.parkreldis.2010.05.005
2010

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
Movement Disorders
Aasly, J.O., Vilariño-Güell, C., Dachsel, J.C., Webber, P.J., West, A.B., Haugarvoll, K., Johansen, K.K., Toft, M., Nutt, J.G., Payami, H., Kachergus, J.M., Lincoln, S.J., Felic, A., Wider, C., Soto-Ortolaza, A.I., Cobb, S.A., White, L.R., Ross, O.A., Farrer, M.J.
DOI: 10.1002/mds.23265
2010

a-synuclein gene may interact with environmental factors in increasing risk of Parkinson's disease
Neuroepidemiology
Gatto, N.M. and Rhodes, S.L. and Manthripragada, A.D. and Bronstein, J. and Cockburn, M. and Farrer, M. and Ritz, B.
DOI: 10.1159/000315157
2010

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease
Parkinsonism and Related Disorders
Vilariño-Güell, C., Ross, O.A., Wider, C., Jasinska-Myga, B., Cobb, S.A., Soto-Ortolaza, A.I., Kachergus, J.M., Keeling, B.H., Dachsel, J.C., Melrose, H.L., Behrouz, B., Wszolek, Z.K., Uitti, R.J., Aasly, J.O., Rajput, A., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2009.08.006
2010

LRRK2 and Parkinson disease
Archives of Neurology
Dächsel, J.C., Farrer, M.J.
DOI: 10.1001/archneurol.2010.79
2010

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease
Mechanisms of Ageing and Development
Dachsel, J.C., Nishioka, K., Vilariño-Güell, C., Lincoln, S.J., Soto-Ortolaza, A.I., Kachergus, J., Hinkle, K.M., Heckman, M.G., Jasinska-Myga, B., Taylor, J.P., Dickson, D.W., Gibson, R.A., Hentati, F., Ross, O.A., Farrer, M.J.
DOI: 10.1016/j.mad.2010.01.009
2010

Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor
Parkinsonism and Related Disorders
Keeling, B.H., Vilariño-Güell, C., Soto-Ortolaza, A.I., Ross, O.A., Uitti, R.J., Rajput, A., Wszolek, Z.K., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2009.08.011
2010

Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease
Parkinsonism and Related Disorders
Nishioka, K., Vilariño-Güell, C., Cobb, S.A., Kachergus, J.M., Ross, O.A., Hentati, E., Hentati, F., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2010.09.007
2010

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease
Neuroscience Letters
Behrouz, B., Vilariño-Güell, C., Heckman, M.G., Soto-Ortolaza, A.I., Aasly, J.O., Sando, S., Lynch, T., Craig, D., Uitti, R.J., Wszolek, Z.K., Ross, O.A., Farrer, M.J.
DOI: 10.1016/j.neulet.2010.09.059
2010

Reply to: SNCA variants are associated with increased risk of multiple system atrophy
Annals of Neurology
Ross, O.A., Vilariño-Güell, C., Wszolek, Z.K., Farrer, M.J., Dickson, D.W.
DOI: 10.1002/ana.21786
2010

Dopamine turnover increases in asymptomatic LRRK2 mutations carriers
Movement Disorders
Sossi, V., De La Fuente-Fernández, R., Nandhagopal, R., Schulzer, M., McKenzie, J., Ruth, T.J., Aasly, J.O., Farrer, M.J., Wszolek, Z.K., Stoessl, J.A.
DOI: 10.1002/mds.23356
2010

Parkinson disease: Parkinson disease-moving beyond association
Nature Reviews Neurology
Ross, O.A. and Farrer, M.J.
DOI: 10.1038/nrneurol.2010.69
2010

An independent replication of park16 in asian samples
Neurology
Vilariño-Güell, C., Ross, O.A., Aasly, J.O., White, L.R., Rajput, A., Rajput, A.H., Lynch, T., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Lee, M.-C., Hentati, F., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Wu, R.-M.
DOI: 10.1212/WNL.0b013e318202031f
2010

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease
Journal of Neurology, Neurosurgery and Psychiatry
Nishioka, K., Kefi, M., Jasinska-Myga, B., Wider, C., Vilariño-Güell, C., Ross, O.A., Heckman, M.G., Middleton, L.T., Ishihara-Paul, L., Gibson, R.A., Amouri, R., Yahmed, S.B., Sassi, S.B., Zouari, M., Euch, G.E., Farrer, M.J., Hentati, F.
DOI: 10.1136/jnnp.2009.185231
2010

Lrrk2 localization in the primate basal ganglia and thalamus: A light and electron microscopic analysis in monkeys
Experimental Neurology
Lee, H. and Melrose, H.L. and Yue, M. and Pare, J.-F. and Farrer, M.J. and Smith, Y.
DOI: 10.1016/j.expneurol.2010.05.004
2010

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
Clinical Genetics
Taylor, A. and Wang, D. and Patel, K. and Whittall, R. and Wood, G. and Farrer, M. and Neely, R.D.G. and Fairgrieve, S. and Nair, D. and Barbir, M. and Jones, J.L. and Egan, S. and Everdale, R. and Lolin, Y. and Hughes, E. and Cooper, J.A. and Hadfield, S.G. and Norbury, G. and Humphries, S.E.
DOI: 10.1111/j.1399-0004.2009.01356.x
2010

LRRK2 variation and Parkinson's disease in African Americans
Movement Disorders
Ross, O.A., Wilhoite, G.J., Bacon, J.A., Soto-Ortolaza, A., Kachergus, J., Cobb, S.A., Puschmann, A., Vilariño-Güell, C., Farrer, M.J., Graff-Radford, N., Meschia, J.F., Wszolek, Z.K.
DOI: 10.1002/mds.23163
2010

LRRK2 and Parkinson's Disease
Blue Books of Neurology
James Farrer, M.
DOI: 10.1016/B978-1-4160-6641-5.00007-6
2010

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
Movement Disorders
Jasinska-Myga, B., Kachergus, J., Vilariño-Güell, C., Wider, C., Soto-Ortolaza, A.I., Kefi, M., Middleton, L.T., Ishihara-Paul, L., Gibson, R.A., Amouri, R., Yahmed, S.B., Sassi, S.B., Zouari, M., El Euch, G., Ross, O.A., Hentati, F., Farrer, M.J.
DOI: 10.1002/mds.23283
2010

Association of pyridoxal kinase and parkinson disease
Annals of Neurology
Vilariño-Güell, C., Wider, C., Aasly, J.O., White, L.R., Rajput, A., Rajput, A.H., Lynch, T., Krygowska-Wajs, A., Jasinska-Myga, B., Opala, G., Barcikowska, M., Czyzewski, K., Wu, R.-M., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Ross, O.A.
DOI: 10.1002/ana.21962
2010

Glucocerebrosidase mutations are not a common risk factor for parkinson disease in North Africa
Neuroscience Letters
Nishioka, K., Vilariño-Güell, C., Cobb, S.A., Kachergus, J.M., Ross, O.A., Wider, C., Gibson, R.A., Hentati, F., Farrer, M.J.
DOI: 10.1016/j.neulet.2009.11.066
2010

GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease
European Journal of Neurology
Jasinska-Myga, B. and Wider, C. and Opala, G. and Krygowska-Wajs, A. and Barcikowska, M. and Czyzewski, K. and Baker, M. and Rademakers, R. and Uitti, R.J. and Farrer, M.J. and Ross, O.A. and Wszolek, Z.K.
DOI: 10.1111/j.1468-1331.2009.02621.x
2009

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism
Movement Disorders
Lee, M.-J. and Mata, I.F. and Lin, C.-H. and Tzen, K.-Y. and Lincoln, S.J. and Bounds, R. and Lockhart, P.J. and Hulihan, M.M. and Farrer, M.J. and Wu, R.-M.
DOI: 10.1002/mds.22093
2009

Dopamine transporter genetic variants and pesticides in Parkinson's disease
Environmental Health Perspectives
Ritz, B.R. and Manthripragada, A.D. and Costello, S. and Lincoln, S.J. and Farrer, M.J. and Cockburn, M. and Bronstein, J.
DOI: 10.1289/ehp.0800277
2009

DCTN1 mutations in Perry syndrome
Nature Genetics
Farrer, M.J., Hulihan, M.M., Kachergus, J.M., Dächsel, J.C., Stoessl, A.J., Grantier, L.L., Calne, S., Calne, D.B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., Gutmann, L., Elibol, B., Bhatia, K.P., Wider, C., Vilario-Güell, C., Ross, O.A., Brown, L.A., Castanedes-Casey, M., Dickson, D.W., Wszolek, Z.K.
DOI: 10.1038/ng.293
2009

ATP13A2 variability in Parkinson disease
Human Mutation
Vilariño-Güell, C., Soto, A.I., Lincoln, S.J., Yahmed, S.B., Kefi, M., Heckman, M.G., Hulihan, M.M., Chai, H., Diehl, N.N., Amouri, R., Rajput, A., Mash, D.C., Dickson, D.W., Middleton, L.T., Gibson, R.A., Hentati, F., Farrer, M.J.
DOI: 10.1002/humu.20877
2009

Phactr2 and Parkinson's disease
Neuroscience Letters
Wider, C. and Lincoln, S.J. and Heckman, M.G. and Diehl, N.N. and Stone, J.T. and Haugarvoll, K. and Aasly, J.O. and Gibson, J.M. and Lynch, T. and Rajput, A. and Rajput, M.L. and Uitti, R.J. and Wszolek, Z.K. and Farrer, M.J. and Ross, O.A.
DOI: 10.1016/j.neulet.2009.02.009
2009

Genetic factors influencing age at onset in LRRK2-linked Parkinson disease
Parkinsonism and Related Disorders
Golub, Y. and Berg, D. and Calne, D.B. and Pfeiffer, R.F. and Uitti, R.J. and Stoessl, A.J. and Wszolek, Z.K. and Farrer, M.J. and Mueller, J.C. and Gasser, T. and Fuchs, J.
DOI: 10.1016/j.parkreldis.2008.10.008
2009

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
Parkinsonism and Related Disorders
Ross, O.A. and Spanaki, C. and Griffith, A. and Lin, C.-H. and Kachergus, J. and Haugarvoll, K. and Latsoudis, H. and Plaitakis, A. and Ferreira, J.J. and Sampaio, C. and Bonifati, V. and Wu, R.-M. and Zabetian, C.P. and Farrer, M.J.
DOI: 10.1016/j.parkreldis.2008.09.001
2009

Reported mutations in GIGYF2 are not a common cause of Parkinson's disease
Movement Disorders
Vilariño-Güell, C., Ross, O.A., Soto, A.I., Farrer, M.J., Haugarvoll, K., Aasly, J.O., Uitti, R.J.
DOI: 10.1002/mds.22451
2009

A Swedish family with de novo a-synuclein A53T mutation: Evidence for early cortical dysfunction
Parkinsonism and Related Disorders
Puschmann, A., Ross, O.A., Vilariño-Güell, C., Lincoln, S.J., Kachergus, J.M., Cobb, S.A., Lindquist, S.G., Nielsen, J.E., Wszolek, Z.K., Farrer, M., Widner, H., van Westen, D., Hägerström, D., Markopoulou, K., Chase, B.A., Nilsson, K., Reimer, J., Nilsson, C.
DOI: 10.1016/j.parkreldis.2009.06.007
2009

FGF20 and Parkinson's disease: No evidence of association or pathogenicity via a-synuclein expression
Movement Disorders
Wider, C. and Dachsel, J.C. and Soto, A.I. and Heckman, M.G. and Diehl, N.N. and Yue, M. and Lincoln, S. and Aasly, J.O. and Haugarvoll, K. and Trojanowski, J.Q. and Papapetropoulos, S. and Mash, D. and Rajput, A. and Rajput, A.H. and Gibson, J.M. and Lynch, T. and Dickson, D.W. and Uitti, R.J. and Wszolek, Z.K. and Farrer, M.J. and Ross, O.A.
DOI: 10.1002/mds.22442
2009

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?
Parkinsonism and Related Disorders
Puschmann, A. and Wszolek, Z.K. and Farrer, M. and Gustafson, L. and Widner, H. and Nilsson, C.
DOI: 10.1016/j.parkreldis.2008.08.002
2009

Glucosidase-beta variations and Lewy body disorders
Parkinsonism and Related Disorders
Farrer, M.J. and Williams, L.N. and Algom, A.A. and Kachergus, J. and Hulihan, M.M. and Ross, O.A. and Rajput, A. and Papapetropoulos, S. and Mash, D.C. and Dickson, D.W.
DOI: 10.1016/j.parkreldis.2008.08.004
2009

Analysis of PArkin Co-Regulated Gene in a Taiwanese-Ethnic Chinese cohort with early-onset Parkinson's disease
Parkinsonism and Related Disorders
Taylor, J.M. and Wu, R.-M. and Farrer, M.J. and Delatycki, M.B. and Lockhart, P.J.
DOI: 10.1016/j.parkreldis.2008.11.009
2009

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
New England Journal of Medicine
Sidransky, E., Nalls, M.A., Aasly, J.O., Aharon-Peretz, J., Annesi, G., Barbosa, E.R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., Chen, C.-M., Clark, L.N., Condroyer, C., De Marco, E.V., Dürr, A., Eblan, M.J., Fahn, S., Farrer, M.J., Fung, H.-C., Gan-Or, Z., Gasser, T., Gershoni-Baruch, R., Giladi, N., Griffith, A., Gurevich, T., Januario, C., Kropp, P., Lang, A.E., Lee-Chen, G.-J., Lesage, S., Marder, K., Mata, I.F., Mirelman, A., Mitsui, J., Mizuta, I., Nicoletti, G., Oliveira, C., Ottman, R., Orr-Urtreger, A., Pereira, L.V., Quattrone, A., Rogaeva, E., Rolfs, A., Rosenbaum, H., Rozenberg, R., Samii, A., Samaddar, T., Schulte, C., Sharma, M., Singleton, A., Spitz, M., Tan, E.-K., Tayebi, N., Toda, T., Troiano, A.R., Tsuji, S., Wittstock, M., Wolfsberg, T.G., Wu, Y.-R., Zabetian, C.P., Zhao, Y., Ziegler, S.G.
DOI: 10.1056/NEJMoa0901281
2009

Expanding the clinical phenotype of SNCA duplication carriers
Movement Disorders
Nishioka, K. and Ross, O.A. and Ishii, K. and Kachergus, J.M. and Ishiwata, K. and Kitagawa, M. and Kono, S. and Obi, T. and Mizoguchi, K. and Inoue, Y. and Imai, H. and Takanashi, M. and Mizuno, Y. and Farrer, M.J. and Hattori, N.
DOI: 10.1002/mds.22682
2009

GCH1 expression in human cerebellum from healthy individuals is not gender dependant
Neuroscience Letters
Wider, C. and Lincoln, S. and Dachsel, J.C. and Kapatos, G. and Heckman, M.G. and Diehl, N.N. and Papapetropoulos, S. and Mash, D. and Rajput, A. and Rajput, A.H. and Dickson, D.W. and Wszolek, Z.K. and Farrer, M.J.
DOI: 10.1016/j.neulet.2009.06.082
2009

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Movement Disorders
Rajput, A., Vilariño-Güell, C., Rajput, M.L., Ross, O.A., Soto-Ortolaza, A.I., Lincoln, S.J., Cobb, S.A., Heckman, M.G., Farrer, M.J., Rajput, A.
DOI: 10.1002/mds.22795
2009

Meis1 p.r272h in familial restless legs syndrome
Neurology
Vilariño-Güell, C., Chai, H., Keeling, B.H., Young, J.E., Rajput, A., Lynch, T., Aaslv, J.O., Uitti, R.J., Wszolek, Z.K., Farrer, M.J., Lin, S.-C.
DOI: 10.1212/WNL.0b013e3181ae7c79
2009

Pallidonigral TDP-43 pathology in Perry syndrome
Parkinsonism and Related Disorders
Wider, C. and Dickson, D.W. and Stoessl, A.J. and Tsuboi, Y. and Chapon, F. and Gutmann, L. and Lechevalier, B. and Calne, D.B. and Personett, D.A. and Hulihan, M. and Kachergus, J. and Rademakers, R. and Baker, M.C. and Grantier, L.L. and Sujith, O.K. and Brown, L. and Calne, S. and Farrer, M.J. and Wszolek, Z.K.
DOI: 10.1016/j.parkreldis.2008.07.005
2009

Fine-mapping and candidate gene investigation within the PARK10 locus
European Journal of Human Genetics
Haugarvoll, K. and Toft, M. and Skipper, L. and Heckman, M.G. and Crook, J.E. and Soto, A. and Ross, O.A. and Hulihan, M.M. and Kachergus, J.M. and Sando, S.B. and White, L.R. and Lynch, T. and Gibson, J.M. and Uitti, R.J. and Wszolek, Z.K. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1038/ejhg.2008.187
2009

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
Neuroscience Letters
Keeling, B.H., Vilariño-Güell, C., Ross, O.A., Wszolek, Z.K., Uitti, R.J., Farrer, M.J.
DOI: 10.1016/j.neulet.2009.05.084
2009

Characterization of DCTN1 genetic variability in neurodegeneration
Neurology
Vilariño-Güell, C., Wider, C., Soto-Ortolaza, A.I., Cobb, S.A., Kachergus, J.M., Keeling, B.H., Dachsel, J.C., Hulihan, M.M., Dickson, D.W., Wszolek, Z.K., Uitti, R.J., Graff-Radford, N.R., Boeve, B.F., Josephs, K.A., Miller, B., Boylan, K.B., Gwinn, K., Adler, C.H., Aasly, J.O., Hentati, F., Destée, A., Krygowska-Wajs, A., Chartier-Harlin, M.-C., Ross, O.A., Rademakers, R., Farrer, M.J.
DOI: 10.1212/WNL.0b013e3181a92c4c
2009

Evaluation of gastric emptying in familial and sporadic Parkinson disease
Parkinsonism and Related Disorders
Krygowska-Wajs, A. and Cheshire Jr., W.P. and Wszolek, Z.K. and Hubalewska-Dydejczyk, A. and Jasinska-Myga, B. and Farrer, M.J. and Moskala, M. and Sowa-Staszczak, A.
DOI: 10.1016/j.parkreldis.2009.04.003
2009

Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy
Movement Disorders
Vilariño-Güell, C., Ross, O.A., Farrer, M.J.
DOI: 10.1002/mds.22614
2009

Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome
Mayo Clinic Proceedings
Young, J.E., Vilariño-Güell, C., Lin, S.-C., Wszolek, Z.K., Farrer, M.J.
DOI: 10.4065/84.2.134
2009

GCH1 in early-onset Parkinson's disease
Movement Disorders
Cobb, S.A. and Wider, C. and Ross, O.A. and Mata, I.F. and Adler, C.H. and Rajput, A. and Rajput, A.H. and Wu, R.-M. and Hauser, R. and Josephs, K.A. and Carr, J. and Gwinn, K. and Heckman, M.G. and Aasly, J.O. and Lynch, T. and Uitti, R.J. and Wszolek, Z.K. and Kapatos, G. and Farrer, M.J.
DOI: 10.1002/mds.22729
2009

PINK1 mutations and parkinsonism
Neurology
Ishihara-Paul, L. and Hulihan, M.M. and Kachergus, J. and Upmanyu, R. and Warren, L. and Amouri, R. and Elango, R. and Prinjha, R.K. and Soto, A. and Kefi, M. and Zouari, M. and Sassi, S.B. and Yahmed, S.B. and El Euch-Fayeche, G. and Matthews, P.M. and Middleton, L.T. and Gibson, R.A. and Hentati, F. and Farrer, M.J.
DOI: 10.1212/01.wnl.0000323812.40708.1f
2008

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
Annals of Neurology
Ross, O.A. and Wu, Y.-R. and Lee, M.-C. and Funayama, M. and Chen, M.-L. and Soto, A.I. and Mata, I.F. and Lee-Chen, G.-J. and Chiung, M.C. and Tang, M. and Zhao, Y. and Hattori, N. and Farrer, M.J. and Tan, E.-K. and Wu, R.-M.
DOI: 10.1002/ana.21405
2008

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5
Neurology
Wider, C. and Melquist, S. and Hauf, M. and Solida, A. and Cobb, S.A. and Kachergus, J.M. and Gass, J. and Coon, K.D. and Baker, M. and Cannon, A. and Stephan, D.A. and Schorderet, D.F. and Ghika, J. and Burkhard, P.R. and Kapatos, G. and Hutton, M. and Farrer, M.J. and Wszolek, Z.K. and Vingerhoets, F.J.G.
DOI: 10.1212/01.wnl.0000275527.35752.c5
2008

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
Acta Neurologica Scandinavica
Myhre, R. and Toft, M. and Kachergus, J. and Hulihan, M.M. and Aasly, J.O. and Klungland, H. and Farrer, M.J.
DOI: 10.1111/j.1600-0404.2008.01019.x
2008

In vivo silencing of alpha-synuclein using naked siRNA
Molecular Neurodegeneration
Lewis, J. and Melrose, H. and Bumcrot, D. and Hope, A. and Zehr, C. and Lincoln, S. and Braithwaite, A. and He, Z. and Ogholikhan, S. and Hinkle, K. and Kent, C. and Toudjarska, I. and Charisse, K. and Braich, R. and Pandey, R.K. and Heckman, M. and Maraganore, D.M. and Crook, J. and Farrer, M.J.
DOI: 10.1186/1750-1326-3-19
2008

Genetic variation of Omi/HtrA2 and Parkinson's disease
Parkinsonism and Related Disorders
Ross, O.A., Soto, A.I., Vilariño-Güell, C., Heckman, M.G., Diehl, N.N., Hulihan, M.M., Aasly, J.O., Sando, S., Gibson, J.M., Lynch, T., Krygowska-Wajs, A., Opala, G., Barcikowska, M., Czyzewski, K., Uitti, R.J., Wszolek, Z.K., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2008.08.003
2008

Genetics of Parkinson's Disease
Parkinson's Disease
Ross, O.A. and Braithwaite, A.T. and Farrer, M.J.
DOI: 10.1016/B978-0-12-374028-1.00002-6
2008

Dopamine ß-hydroxylase -1021C>T association and Parkinson's disease
Parkinsonism and Related Disorders
Ross, O.A., Heckman, M.G., Soto, A.I., Diehl, N.N., Haugarvoll, K., Vilariño-Güell, C., Aasly, J.O., Sando, S., Gibson, J.M., Lynch, T., Krygowska-Wajs, A., Opala, G., Barcikowska, M., Czyzewski, K., Uitti, R.J., Wszolek, Z.K., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2008.07.002
2008

Genomic investigation of a-synuclein multiplication and parkinsonism
Annals of Neurology
Ross, O.A. and Braithwaite, A.T. and Skipper, L.M. and Kachergus, J. and Hulihan, M.M. and Middleton, F.A. and Nishioka, K. and Fuchs, J. and Gasser, T. and Maraganore, D.M. and Adler, C.H. and Larvor, L. and Chartier-Harlin, M.-C. and Nilsson, C. and Langston, J.W. and Gwinn, K. and Hattori, N. and Farrer, M.J.
DOI: 10.1002/ana.21380
2008

LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study
The Lancet Neurology
Hulihan, M.M. and Ishihara-Paul, L. and Kachergus, J. and Warren, L. and Amouri, R. and Elango, R. and Prinjha, R.K. and Upmanyu, R. and Kefi, M. and Zouari, M. and Sassi, S.B. and Yahmed, S.B. and El Euch-Fayeche, G. and Matthews, P.M. and Middleton, L.T. and Gibson, R.A. and Hentati, F. and Farrer, M.J.
DOI: 10.1016/S1474-4422(08)70116-9
2008

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
Neurology
Haugarvoll, K. and Rademakers, R. and Kachergus, J.M. and Nuytemans, K. and Ross, O.A. and Gibson, J.M. and Tan, E.-K. and Gaig, C. and Tolosa, E. and Goldwurm, S. and Guidi, M. and Riboldazzi, G. and Brown, L. and Walter, U. and Benecke, R. and Berg, D. and Gasser, T. and Theuns, J. and Pals, P. and Cras, P. and De Deyn, P.P. and Engelborghs, S. and Pickut, B. and Uitti, R.J. and Foroud, T. and Nichols, W.C. and Hagenah, J. and Klein, C. and Samii, A. and Zabetian, C.P. and Bonifati, V. and Van Broeckhoven, C. and Farrer, M.J. and Wszolek, Z.K.
DOI: 10.1212/01.wnl.0000304044.22253.03
2008

Susceptibility genes for restless legs syndrome are not associated with Parkinson disease
Neurology
Vilariño-Güell, C., Soto, A.I., Young, J.E., Lin, S.-C., Uitti, R.J., Wszolek, Z.K., Farrer, M.J.
DOI: 10.1212/01.wnl.0000317101.67684.e3
2008

Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family
Parkinsonism and Related Disorders
Wider, C. and Skipper, L. and Solida, A. and Brown, L. and Farrer, M. and Dickson, D. and Wszolek, Z.K. and Vingerhoets, F.J.G.
DOI: 10.1016/j.parkreldis.2007.11.013
2008

SLCO1B1 variants and statin-induced myopathy - A genomewide study
New England Journal of Medicine
Meade, T., Sleight, P., Collins, R., Armitage, J., Parish, S., Barton, J., Bray, C., Wincott, E., Bowman, L., Clarke, R., Graham, I., Simpson, D., Warlow, C., Wilcken, D., Tobert, J., Musliner, T., Wilhelmsen, L., Doll, R., Fox, K.M., Hill, C., Sandercock, P., Peto, R., Webster, J., Jamieson, J., Nixon, A., Lackie, S., Thompson, J., Brown, M., Blackwood, S., Morgan, M., Rhoden, W., Saeed, B., Houghton, M., Nicholson, A., Simpson, C., Hoburn, B., Cooper, I., Gallivan, A., Pickerell, E., Hancock, J., Watkinson, J., Ryder, B., Jones, S., Burbridge, W., Kitchen, M., O'Leary, H., Verow, C., Meynell, L., Rollinson, L., Bain, S., Jones, A., Jewkes, C., Russon, C., Bateson, M., Gill, P., Nicol, J., Stansbie, D., Bayly, G., Andrews, G., Halestrap, M., Meredith, J., Best, R., Appleyard, D., Briggs, R., Wareing, H., Holmes, K., Holt, J., Kenyon, M., White, C., Khalifa, M., Newton, D., Wass, A., Watkinson, R., Creamer, J., Anderson, S., Bethell, A., Butler, C., Washington, M., Weston, E., Machin, J., Cleaver, K., Wray, R., Sinclair, J., Van Aalst, A., Been, M., Mattu, R., Bates, D., Burke, A., Gill, L., Walton, E., Cowley, M., Robson, H., Graham, A., Rose, G., Kerr, M., Mallinson, J., Peascod, B., Kalk, J., Scott, A., Donnelly, R., Gibson, T., Hannah, J., Henshaw, L., Margetts, M., Pearson, N., Frost, S., Murray, S., Marshall, A., Went, J., Inman, A., Simmonds, J., Teasdale, A., Kemp, T., Roberts, G., Kooner, J., Cahill, S., Lloyd, M., Molloy, O., Wrigley, J., Galvin, M., Wilder, C., Swainson, C., Lindley, R., Shaw, S., Hillis, L., Johnston, J., Miller, D., Kennedy, M., Mushahwar, S., Savage, M., Ayer, G., Schofield, J., Greenhalgh, S., Parks, J., Speak, S., Coulson, C., Papouchado, M., Carpenter, R., Wisby, J., Cobbe, S., Campbell, C., Hunter, J., Young, H., Gallacher, M., Lindsay, D., Halliday, A., Godfrey, S., O'Donahoo, L., Chambers, J., Wierzbicki, A., Parkin, D., Nwafor, K., Vallance, B., Oldroyd, K., Cunningham, N., Moreland, G., Oldroyd, C., Crawford, M., Hillson, R., Knott, K., Mahabir, N., Crouch, A., MacDonald, Y., Green, J., Brown, L., Heron, J., Jones, N., Roberts, M., Hainsworth, D., Williams, J., Barnes, P., Longworth, C., Davidson, J., Irvine, N., Oliver, R., Pond, C., Nuttall, M., Lloyd-Mostyn, R., Blackburn, S., Furnell, W., Webster, S., Wheatley, L., Hudson, I., Pohl, J., Nicholson, S., Mallya, S., Nash, M., Spruce, J., Searle, A., Bonner, A., Leather, J., Davies, E., Egdell, R., Price, B., Robinson, A., Horton, S., Cunnington, A., Giles, P., Sidaway, J., Tomlinson, L., Hawkins, L., Long, J., Murphy, J., Brennan, G., Boon, M., Cassidy, S., Rodger, C., McNeilly, A., Radcliffe, A., Farrer, M., Bluett, J., Cowell, L., Farrell, A., Gilroy, S., Warren, S., MacConnell, T., Burtchaell, S., Williams, L., Rylance, P., Hodgson, A., Kertland-Hill, K., Robinson, L., Smallwood, A., Lomas, S., Ball, J., Hardy, K., Benbow, S., Gerrard, M., Langley, C., Fagan, C., Green, B., Pringle, T., Hanna, H., Mackintosh, A., Watson, E., Swan, J., McSorland, D., Thompson, G., O'Neill, C., Curless, R., Doig, C., McKenna, P., Martin, J., Murdy, J., Martin, S., Birkhead, J., O'Donnell, J., Dixon, S., Hassall, A., Tanqueray, E., Vass, D., Cosford, I., Elderkin, M., McKenzie, P., Gray, T., Holmshaw, N., McKinnon, A., Ali, I., Stephens, N., Banfield, A., Chester, L., Wiseman, J., Harrisingh, N., Patel, R., Thaker, P., Watkins, H., Beebe, S., Fitzgerald, J., Godden, J., Lawson, A., Lochhead, H., Taylor, A., Turner, S., Rowlands, D., Cooper, A., Graham, J., Hennessy, S., Rashid, T., Smith, C., Nyman, C., Adams, J., Hardwick, A., Buck, P., Pattinson, C., Trigg, J., McLeod, A., Gardner, S., Haimes, L., Orr, S., Johns, S., Capps, N., Cook, A., Donaldson, D., Keighley, C., Stiles, C., Asbridge, S., Buller, N., Hooks, J., Jones, H., Watson, R., Salt, P., Francis, M., MacLeod, D., Allcoat, P., Stuart, R., Reynolds, T., Maiden, J., Reynolds, J., Murray, D., MacFadyen, R., Potts, L., Smith, A., King, L., Muthusamy, R., Jones, M., Lawan, M., Weston, C., Nixon, J., Wasnidge, L., Hutchesson, A., Evans, J., Morris, K., Oultram, M., Armitage, M., Skule, R., Cope, C., Page, M., Fleming, S., Andain, K., Parrett, M., Soper, R., MacLeod, K., Gordon, K., Green, E., Havill, S., Stewart, V., Allen, S., Henson, S., Rimmer, C., Davies, J., Javed, M., Norris, A., Williams, M., Khan, S., Dobie, G., Fitton, J., Gilbert, S., Davenport, C., Williamson, M., Vincent, R., Joyce, E., Reckless, J., Bishop, A., Brice, L., Field, P., Shute, C., Stacey, D., Findlay, I., Labib, M., Beddoe, L., Reed, J., Barron, J., Odemuyiwa, O., Bradford, B., McDonnell, M., West, L., Beck, P., Gilbey, S., Clarkson, A., Drury, K., Hall, S., Quartey, D., Whittam, B., Lund, D., Stott, L., Griffiths, H., Kudarenko, A., Watkins, J., Golledge, S., Pottle, J., Little, S., Paine, B., Shears, C., Baxter, M., Wilkinson, P., Chambers, R., Hamper, C., Hollister, E., Ramsay, H., Barber, J., Hopkins, T., Hughes, L., Elson-Whittaker, J., Lambley, R., Lloyd, C., Dhawan, J., John, J., Bramley, D., Catchpole, A., Colecchia, A., LeQuelenec, M., Remington, D., Gray, C., Anderson, P., Woolass, R., Thomas, P., Guy, F., Lynch, J., Thomas, R., Coates, S., Gait, M., Waller, D., Elkins, K., Franklin, M., Moore, L., Signy, M., Chilton, R., Wrapson, C., Wiltshire, C., Lewis, P., Curtis, J., O'Toole, J., Scanlon, S., Carey, C., Dobson, L., Gould, M., Mansfield, H., Ranson, G., Rodaway, M., Germon, J., McDowell, I., Cockcroft, J., Field, R., Whiting, J., Roberts, D., Cooper, M., Davies, C., Radford, L., Ward, L., McAlpine, H., Dougall, H., Robertson, L., Scott, L., Humphrey, P., Saminaden, S., Watling, D., Owen, L., Clements, M., Walker, E., Atkins, E., Shaw, T., MacCallum, H., Markie, D., Melville, V., Adamson, L., Johnston, A., Poulkard, E., Rudden, M., Hogan, J., Lie, F., Badger, V., Duffy, S., Mitchell, C., MacQueen, E., Baxter, R., Campbell, S., McDonald, L., Wood, H., Munro, A., Pycock, C., Cadwell, J., Doughty, A., Harvey, M., Price, S., Aldersley, M., Lock, S., Pendrey, P., Boland, A., Delepine, M., Gut, I., Heath, S., Lathrop, M., Lechner, D., Matsuda, F., Zelenika, D., Dayanandan, R., Anderson, C., Benham, J., Bojowsky, H., Booker, V., Brewer, A., Brindley, G., Cobb, L., Corbett, M., Crowther, J., Danesh-Pour, S., Edmunds, K., Fortun, A., Grimsey, T., Harwood, C., Haywood, D., Hope, C., Jones, R., Kidney, K., King, M., Knight, S., Lang, H., Madgwick, Z., Marsden, C., Marshall, P., Matthews, C., Matthewson, M., Miller, J., Moss, B., Mostefai, Y., Murphy, K., Naughten, A., Pickworth, S., Radley, A., Southren, S., Sutherland, S., Tong, R., Umbrath, M., Baigent, C., Bulbulia, R., Dasgupta, T., Haynes, R., Landray, M., Mafham, M., Majoni, W., Porter, T., Rahimi, K., Reith, C., Walter, K., Harding, P., Lay, M., Wallendszus, K., Berry, C., Bennett, D., Bettesworth, H., Booth, J., Bowes, M., Bu, Y., Charles, A., Cleverley, P., Cody, A., Cox, J., Craig, M., Emberson, J., Goodwin, N., Hopewell, J., Hurt, C., Link, E., McCabe, P., Munday, A., Murawska, A., Offer, A., Palmer, A., Peto, R., Prajapati, N., Tochlin, S., Young, A., Clark, S., Kourellias, K., Radley, M., Ambrose, V., Bradley, M., Bush, E., Chavagnon, T., Chukwurah, B., Crowley, S., Dunseath, J., Emmens, K., Fletcher, L., Gordon, J., Gordon, A., Hickman, C., Hill, J., Ji, M., Lee, A., Luker, N., Norris, S., Priestley, H., Sullivan, J., Taylor, J., Wintour, J., Yeung, M., Youngman, L.
DOI: 10.1056/NEJMoa0801936
2008

A genetic risk factor for periodic limb movements in sleep [7]
New England Journal of Medicine
Vilariño-Güell, C., Farrer, M.J., Lin, S.-C.
DOI: 10.1056/NEJMc072518
2008

LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: Clinical, PET, and functional studies
Journal of Biomedical Science
Lin, C.-H. and Tzen, K.-Y. and Yu, C.-Y. and Tai, C.-H. and Farrer, M.J. and Wu, R.-M.
DOI: 10.1007/s11373-008-9260-0
2008

Progression of dopaminergic dysfunction in a LRRK2 kindred: A multitracer PET study
Neurology
Nandhagopal, R. and Mak, E. and Schulzer, M. and McKenzie, J. and McCormick, S. and Sossi, V. and Ruth, T.J. and Strongosky, A. and Farrer, M.J. and Wszolek, Z.K. and Stoessl, A.J.
DOI: 10.1212/01.wnl.0000335973.66333.58
2008

Genetic association study of synphilin-1 in idiopathic Parkinson's disease
BMC Medical Genetics
Myhre, R. and Klungland, H. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1186/1471-2350-9-19
2008

The Genetics and molecular biology of a-synuclein
Handbook of Clinical Neurology
Farrer, M.
DOI: 10.1016/S0072-9752(07)01230-4
2008

a-Synuclein, pesticides, and Parkinson disease: A case-control study
Neurology
Brighina, L. and Frigerio, R. and Schneider, N.K. and Lesnick, T.G. and De Andrade, M. and Cunningham, J.M. and Farrer, M.J. and Lincoln, S.J. and Checkoway, H. and Rocca, W.A. and Maraganore, D.M.
DOI: 10.1212/01.wnl.0000304049.31377.f2
2008

The ancestry of LRRK2 Gly2019Ser parkinsonism - Authors' reply
The Lancet Neurology
Farrer, M.J. and Gibson, R. and Hentati, F.
DOI: 10.1016/S1474-4422(08)70179-0
2008

Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel
Journal of Neural Transmission
Djaldetti, R., Hassin-Baer, S., Farrer, M.J., Vilariño-Güell, C., Ross, O.A., Kolianov, V., Yust-Katz, S., Treves, T.A., Barhum, Y., Hulihan, M., Melamed, E.
DOI: 10.1007/s00702-008-0074-z
2008

Identification of potential protein interactors of Lrrk2
Parkinsonism and Related Disorders
Dächsel, J.C., Taylor, J.P., Mok, S.S., Ross, O.A., Hinkle, K.M., Bailey, R.M., Hines, J.H., Szutu, J., Madden, B., Petrucelli, L., Farrer, M.J.
DOI: 10.1016/j.parkreldis.2007.01.008
2007

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms
American Journal of Human Genetics
Melquist, S. and Craig, D.W. and Huentelman, M.J. and Crook, R. and Pearson, J.V. and Baker, M. and Zismann, V.L. and Gass, J. and Adamson, J. and Szelinger, S. and Corneveaux, J. and Cannon, A. and Coon, K.D. and Lincoln, S. and Adler, C. and Tuite, P. and Calne, D.B. and Bigio, E.H. and Uitti, R.J. and Wszolek, Z.K. and Golbe, L.I. and Caselli, R.J. and Graff-Radford, N. and Litvan, I. and Farrer, M.J. and Dickson, D.W. and Hutton, M. and Stephan, D.A.
DOI: 10.1086/513320
2007

Phenotypic associations of tau and ApoE in Parkinson's disease
Neuroscience Letters
Papapetropoulos, S. and Farrer, M.J. and Stone, J.T. and Milkovic, N.M. and Ross, O.A. and Calvo, L. and McQuorquodale, D. and Mash, D.C.
DOI: 10.1016/j.neulet.2006.12.008
2007

Aprataxin (APTX) gene mutations resembling multiple system atrophy
Parkinsonism and Related Disorders
Baba, Y. and Uitti, R.J. and Boylan, K.B. and Uehara, Y. and Yamada, T. and Farrer, M.J. and Couchon, E. and Batish, S.D. and Wszolek, Z.K.
DOI: 10.1016/j.parkreldis.2006.08.010
2007

Familial genes in sporadic disease: Common variants of a-synuclein gene associate with Parkinson's disease
Mechanisms of Ageing and Development
Ross, O.A. and Gosal, D. and Stone, J.T. and Lincoln, S.J. and Heckman, M.G. and Irvine, G.B. and Johnston, J.A. and Gibson, J.M. and Farrer, M.J. and Lynch, T.
DOI: 10.1016/j.mad.2007.04.002
2007

Quantitative PCR-based screening of a-synuclein multiplication in multiple system atrophy
Parkinsonism and Related Disorders
Lincoln, S.J. and Ross, O.A. and Milkovic, N.M. and Dickson, D.W. and Rajput, A. and Robinson, C.A. and Papapetropoulos, S. and Mash, D.C. and Farrer, M.J.
DOI: 10.1016/j.parkreldis.2006.12.005
2007

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
Parkinsonism and Related Disorders
Farrer, M.J., Stone, J.T., Lin, C.-H., Dächsel, J.C., Hulihan, M.M., Haugarvoll, K., Ross, O.A., Wu, R.-M.
DOI: 10.1016/j.parkreldis.2006.12.001
2007

Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis
Journal of Neural Transmission
Whittle, A.J., Ross, O.A., Naini, A., Gordon, P., Mistumoto, H., Dächsel, J.C., Stone, J.T., Wszolek, Z.K., Farrer, M.J., Przedborski, S.
DOI: 10.1007/s00702-006-0525-3
2007

Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of parkinsonian diseases
Neurobiology of Disease
Taylor, J.M. and Song, Y.J.C. and Huang, Y. and Farrer, M.J. and Delatycki, M.B. and Halliday, G.M. and Lockhart, P.J.
DOI: 10.1016/j.nbd.2007.04.014
2007

Common variants in Parkinson's disease [2]
Movement Disorders
Ross, O.A. and Farrer, M.J. and Wu, R.-M.
DOI: 10.1002/mds.21463
2007

The ups and downs of a-synuclein mRNA expression [12]
Movement Disorders
Dächsel, J.C., Lincoln, S.J., Gonzalez, J., Ross, O.A., Dickson, D.W., Farrer, M.J.
DOI: 10.1002/mds.21223
2007

LRRK2 and Parkinson's disease in Norway
Acta Neurologica Scandinavica
Toft, M. and Haugarvoll, K. and Ross, O.A. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1111/j.1600-0404.2007.00852.x
2007

Leucine-rich repeat kinase 1: A paralog of LRRK2 and a candidate gene for Parkinson's disease
Neurogenetics
Taylor, J.P. and Hulihan, M.M. and Kachergus, J.M. and Melrose, H.L. and Lincoln, S.J. and Hinkle, K.M. and Stone, J.T. and Ross, O.A. and Hauser, R. and Aasly, J. and Gasser, T. and Payami, H. and Wszolek, Z.K. and Farrer, M.J.
DOI: 10.1007/s10048-006-0075-8
2007

ELAVL4, PARK10, and the celts
Movement Disorders
Haugarvoll, K. and Toft, M. and Ross, O.A. and Stone, J.T. and Heckman, M.G. and White, L.R. and Lynch, T. and Gibson, J.M. and Wszolek, Z.K. and Uitti, R.J. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1002/mds.21336
2007

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Movement Disorders
Toft, M. and Mata, I.F. and Ross, O.A. and Kachergus, J. and Hulihan, M.M. and Haugarvoll, K. and Stone, J.T. and Blazquez, M. and Gibson, J.M. and Aasly, J.O. and White, L.R. and Lynch, T. and Adler, C.H. and Gwinn-Hardy, K. and Farrer, M.J.
DOI: 10.1002/mds.21217
2007

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
Acta Neuropathologica
Dächsel, J.C., Ross, O.A., Mata, I.F., Kachergus, J., Toft, M., Cannon, A., Baker, M., Adamson, J., Hutton, M., Dickson, D.W., Farrer, M.J.
DOI: 10.1007/s00401-006-0178-1
2007

Beta-synuclein gene variants and Parkinson's disease: A preliminary case-control study
Neuroscience Letters
Brighina, L. and Okubadejo, N.U. and Schneider, N.K. and Lesnick, T.G. and de Andrade, M. and Cunningham, J.M. and Farrer, M.J. and Lincoln, S.J. and Rocca, W.A. and Maraganore, D.M.
DOI: 10.1016/j.neulet.2007.05.021
2007

PINK1 mutation heterozygosity and the risk of Parkinson's disease
Journal of Neurology, Neurosurgery and Psychiatry
Toft, M. and Myhre, R. and Pielsticker, L. and White, L.R. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1136/jnnp.2006.097840
2007

Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation
Journal of Neural Transmission
Baba, Y. and Baker, M.C. and Le Ber, I. and Brice, A. and Maeck, L. and Kohlhase, J. and Yasuda, M. and Stoppe, G. and Bugiani, O. and Sperfeld, A.D. and Tsuboi, Y. and Uitti, R.J. and Farrer, M.J. and Ghetti, B. and Hutton, M.L. and Wszolek, Z.K.
DOI: 10.1007/s00702-007-0632-9
2007

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
Neuroscience Letters
Haugarvoll, K. and Toft, M. and Ross, O.A. and White, L.R. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1016/j.neulet.2007.02.020
2007

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
Neurology
Fuchs, J., Nilsson, C., Kachergus, J., Munz, M., Larsson, E.-M., Schüle, B., Langston, J.W., Middleton, F.A., Ross, O.A., Hulihan, M., Gasser, T., Farrer, M.J.
DOI: 10.1212/01.wnl.0000254458.17630.c5
2007

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred [9]
Movement Disorders
Gosal, D. and Lynch, T. and Ross, O.A. and Haugarvoll, K. and Farrer, M.J. and Gibson, J.M.
DOI: 10.1002/mds.21200
2007

Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain
Parkinsonism and Related Disorders
González-Fernández, M.C., Lezcano, E., Ross, O.A., Gómez-Esteban, J.C., Gómez-Busto, F., Velasco, F., Alvarez-Alvarez, M., Rodríguez-Martínez, M.B., Ciordia, R., Zarranz, J.J., Farrer, M.J., Mata, I.F., de Pancorbo, M.M.
DOI: 10.1016/j.parkreldis.2007.04.003
2007

Lrrk2 in the limelight!
Neurology
Farrer, M.J.
DOI: 10.1212/01.wnl.0000279588.20391.88
2007

A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease
Neuroscience
Melrose, H.L. and Kent, C.B. and Taylor, J.P. and Dachsel, J.C. and Hinkle, K.M. and Lincoln, S.J. and Mok, S.S. and Culvenor, J.G. and Masters, C.L. and Tyndall, G.M. and Bass, D.I. and Ahmed, Z. and Andorfer, C.A. and Ross, O.A. and Wszolek, Z.K. and Delldonne, A. and Dickson, D.W. and Farrer, M.J.
DOI: 10.1016/j.neuroscience.2007.05.027
2007

Lrrk2 mutations in South America: A study of Chilean Parkinson's disease
Neuroscience Letters
Perez-Pastene, C., Cobb, S.A., Díaz-Grez, F., Hulihan, M.M., Miranda, M., Venegas, P., Godoy, O.T., Kachergus, J.M., Ross, O.A., Layson, L., Farrer, M.J., Segura-Aguilar, J.
DOI: 10.1016/j.neulet.2007.06.021
2007

MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
Journal of Neuroscience Research
White, L.R. and Toft, M. and Kvam, S.N. and Farrer, M.J. and Aasly, J.O.
DOI: 10.1002/jnr.21240
2007

a-synuclein and Parkinson disease susceptibility
Neurology
Winkler, S. and Hagenah, J. and Lincoln, S. and Heckman, M. and Haugarvoll, K. and Lohmann-Hedrich, K. and Kostic, V. and Farrer, M. and Klein, C.
DOI: 10.1212/01.wnl.0000275524.15125.f4
2007

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
Parkinsonism and Related Disorders
Ross, O.A. and Haugarvoll, K. and Stone, J.T. and Heckman, M.G. and White, L.R. and Aasly, J.O. and Mark Gibson, J. and Lynch, T. and Wszolek, Z.K. and Uitti, R.J. and Farrer, M.J.
DOI: 10.1016/j.parkreldis.2007.01.010
2007

Clinical and pathologic features of families with LRRK2-associated Parkinson's disease
Journal of Neural Transmission, Supplement
Whaley, N.R. and Uitti, R.J. and Dickson, D.W. and Farrer, M.J. and Wszolek, Z.K.
2006

LRRK2 gene and tremor-dominant Parkinsonism [4]
Archives of Neurology
Haugarvoll, K. and Uitti, R.J. and Farrer, M.J. and Wszolek, Z.K.
2006

Lrrk2 R1441 substitution and progressive supranuclear palsy
Neuropathology and Applied Neurobiology
Ross, O.A. and Whittle, A.J. and Cobb, S.A. and Hulihan, M.M. and Lincoln, S.J. and Toft, M. and Farrer, M.J. and Dickson, D.W.
DOI: 10.1111/j.1365-2990.2006.00693.x
2006

Parkinsonism, Lrrk2 G2019S, and tau neuropathology
Neurology
Rajput, A., Dickson, D.W., Robinson, C.A., Ross, O.A., Dächsel, J.C., Lincoln, S.J., Cobb, S.A., Rajput, M.L., Farrer, M.J.
DOI: 10.1212/01.wnl.0000240220.33950.0c
2006

LRRK2 mutations are a common cause of Parkinson's disease in Spain
European Journal of Neurology
Mata, I.F. and Ross, O.A. and Kachergus, J. and Huerta, C. and Ribacoba, R. and Moris, G. and Blazquez, M. and Guisasola, L.M. and Salvador, C. and Martinez, C. and Farrer, M. and Alvarez, V.
DOI: 10.1111/j.1468-1331.2006.01256.x
2006

Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2
Neuroscience Letters
Dächsel, J.C., Mata, I.F., Ross, O.A., Taylor, J.P., Lincoln, S.J., Hinkle, K.M., Huerta, C., Ribacoba, R., Blazquez, M., Alvarez, V., Farrer, M.J.
DOI: 10.1016/j.neulet.2006.06.068
2006

Anatomical localization of leucine-rich repeat kinase 2 in mouse brain
Neuroscience
Melrose, H. and Lincoln, S. and Tyndall, G. and Dickson, D. and Farrer, M.
DOI: 10.1016/j.neuroscience.2006.01.017
2006

Phenotypic commonalities in familial and sporadic Parkinson disease
Archives of Neurology
Baba, Y. and Markopoulou, K. and Putzke, J.D. and Whaley, N.R. and Farrer, M.J. and Wszolek, Z.K. and Uitti, R.J.
DOI: 10.1001/archneur.63.4.579
2006

Genetics of Parkinson disease: Paradigm shifts and future prospects
Nature Reviews Genetics
Farrer, M.J.
DOI: 10.1038/nrg1831
2006

Atypical Parkinsonism and SCA8
Parkinsonism and Related Disorders
Baba, Y. and Uitti, R.J. and Farrer, M.J. and Wszolek, Z.K.
DOI: 10.1016/j.parkreldis.2006.06.001
2006

Lrrk2 and Lewy body disease
Annals of Neurology
Ross, O.A. and Toft, M. and Whittle, A.J. and Johnson, J.L. and Papapetropoulos, S. and Mash, D.C. and Litvan, I. and Gordon, M.F. and Wszolek, Z.K. and Farrer, M.J. and Dickson, D.W.
DOI: 10.1002/ana.20731
2006

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
Neurology
Toft, M. and Pielsticker, L. and Ross, O.A. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1212/01.wnl.0000196492.80676.7c
2006

Genetics of restless legs syndrome
Parkinsonism and Related Disorders
Mata, I.F. and Bodkin, C.L. and Adler, C.H. and Lin, S.-C. and Uitti, R.J. and Farrer, M.J. and Wszolek, Z.K.
DOI: 10.1016/j.parkreldis.2005.08.006
2006

Clinical heterogeneity of a-synuclein gene duplication in Parkinson's disease
Annals of Neurology
Nishioka, K. and Hayashi, S. and Farrer, M.J. and Singleton, A.B. and Yoshino, H. and Imai, H. and Kitami, T. and Sato, K. and Kuroda, R. and Tomiyama, H. and Mizoguchi, K. and Murata, M. and Toda, T. and Imoto, I. and Inazawa, J. and Mizuno, Y. and Hattori, N.
DOI: 10.1002/ana.20753
2006

Collaborative analysis of a-synuclein gene promoter variability and Parkinson disease
Journal of the American Medical Association
Maraganore, D.M., De Andrade, M., Elbaz, A., Farrer, M.J., Ioannidis, J.P., Krüger, R., Rocca, W.A., Schneider, N.K., Lesnick, T.G., Lincoln, S.J., Hulihan, M.M., Aasly, J.O., Ashizawa, T., Chartier-Harlin, M.-C., Checkoway, H., Ferrarese, C., Hadjigeorgiou, G., Hattori, N., Kawakami, H., Lambert, J.-C., Lynch, T., Mellick, G.D., Papapetropoulos, S., Parsian, A., Quattrone, A., Riess, O., Tan, E.-K., Van Broeckhoven, C.
DOI: 10.1001/jama.296.6.661
2006

Clinical heterogeneity of the LRRK2 G2019S mutation
Archives of Neurology
Papapetropoulos, S. and Singer, C. and Ross, O.A. and Toft, M. and Johnson, J.L. and Farrer, M.J. and Mash, D.C.
DOI: 10.1001/archneur.63.9.1242
2006

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
Archives of Neurology
Ishihara, L., Warren, L., Gibson, R., Amouri, R., Lesage, S., Dürr, A., Tazir, M., Wszolek, Z.K., Uitti, R.J., Nichols, W.C., Griffith, A., Hattori, N., Leppert, D., Watts, R., Zabetian, C.P., Foroud, T.M., Farrer, M.J., Brice, A., Middleton, L., Hentati, F.
DOI: 10.1001/archneur.63.9.1250
2006

Biochemical and pathological characterization of Lrrk2
Annals of Neurology
Giasson, B.I. and Covy, J.P. and Bonini, N.M. and Hurtig, H.I. and Farrer, M.J. and Trojanowski, J.Q. and Van Deerlin, V.M.
DOI: 10.1002/ana.20791
2006

LRRK2: A common pathway for parkinsonism, pathogenesis and prevention?
Trends in Molecular Medicine
Taylor, J.P. and Mata, I.F. and Farrer, M.J.
DOI: 10.1016/j.molmed.2005.12.004
2006

Genomewide association, Parkinson disease, and PARK10 [3]
American Journal of Human Genetics
Farrer, M.J. and Haugarvoll, K. and Ross, O.A. and Stone, J.T. and Milkovic, N.M. and Cobb, S.A. and Whittle, A.J. and Lincoln, S.J. and Hulihan, M.M. and Heckman, M.G. and White, L.R. and Aasly, J.O. and Gibson, J.M. and Gosal, D. and Lynch, T. and Wszolek, Z.K. and Uitti, R.J. and Toft, M.
DOI: 10.1086/504728
2006

Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinsons's disease patients from 18 countries
Movement Disorders
Tomiyama, H. and Li, Y. and Funayama, M. and Hasegawa, K. and Yoshino, H. and Kubo, S.-I. and Sato, K. and Hattori, T. and Lu, C.-S. and Inzelberg, R. and Djaldetti, R. and Melamed, E. and Amouri, R. and Gouider-Khouja, N. and Hentati, F. and Hatano, Y. and Wang, M. and Imamichi, Y. and Mizoguchi, K. and Miyajima, H. and Obata, F. and Toda, T. and Farrer, M.J. and Mizuno, Y. and Hattori, N.
DOI: 10.1002/mds.20886
2006

LRRK2 in Parkinson's disease: protein domains and functional insights
Trends in Neurosciences
Mata, I.F. and Wedemeyer, W.J. and Farrer, M.J. and Taylor, J.P. and Gallo, K.A.
DOI: 10.1016/j.tins.2006.03.006
2006

Parkinson's disease: A rethink of rodent models
Experimental Brain Research
Melrose, H.L. and Lincoln, S.J. and Tyndall, G.M. and Farrer, M.J.
DOI: 10.1007/s00221-006-0461-3
2006

PARK11 is not linked with Parkinson's disease in European families
European Journal of Human Genetics
Prestel, J., Sharma, M., Leitner, P., Zimprich, A., Vaughan, J.R., Dürr, A., Bonifati, V., De Michele, G., Hanagasi, H.A., Farrer, M., Hofer, A., Asmus, F., Volpe, G., Meco, G., Brice, A., Wood, N.W., Müller-Myhsok, B., Gasser, T.
DOI: 10.1038/sj.ejhg.5201317
2005

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
Archives of Neurology
Wu, R.-M. and Bounds, R. and Lincoln, S. and Hulihan, M. and Lin, C.-H. and Hwu, W.-L. and Chen, J. and Gwinn-Hardy, K. and Farrer, M.
DOI: 10.1001/archneur.62.1.82
2005

Sporadic SCA8 mutation resembling corticobasal degeneration
Parkinsonism and Related Disorders
Baba, Y. and Uitti, R.J. and Farrer, M.J. and Wszolek, Z.K.
DOI: 10.1016/j.parkreldis.2004.10.008
2005

UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study
Neuroscience Letters
Facheris, M. and Strain, K.J. and Lesnick, T.G. and De Andrade, M. and Bower, J.H. and Ahlskog, J.E. and Cunningham, J.M. and Lincoln, S. and Farrer, M.J. and Rocca, W.A. and Maraganore, D.M.
DOI: 10.1016/j.neulet.2005.02.008
2005

Lrrk2 pathogenic substitutions in Parkinson's disease
Neurogenetics
Mata, I.F. and Kachergus, J.M. and Taylor, J.P. and Lincoln, S. and Aasly, J. and Lynch, T. and Hulihan, M.M. and Cobb, S.A. and Wu, R.-M. and Lu, C.-S. and Lahoz, C. and Wszolek, Z.K. and Farrer, M.J.
DOI: 10.1007/s10048-005-0005-1
2005

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: Evidence of a common founder across European populations
American Journal of Human Genetics
Kachergus, J. and Mata, I.F. and Hulihan, M. and Taylor, J.P. and Lincoln, S. and Aasly, J. and Gibson, J.M. and Ross, O.A. and Lynch, T. and Wiley, J. and Payami, H. and Nutt, J. and Maraganore, D.M. and Czyzewski, K. and Styczynska, M. and Wszolek, Z.K. and Farrer, M.J. and Toft, M.
DOI: 10.1086/429256
2005

LRRK2 R1441G in Spanish patients with Parkinson's disease
Neuroscience Letters
Mata, I.F. and Taylor, J.P. and Kachergus, J. and Hulihan, M. and Huerta, C. and Lahoz, C. and Blazquez, M. and Guisasola, L.M. and Salvador, C. and Ribacoba, R. and Martinez, C. and Farrer, M. and Alvarez, V.
DOI: 10.1016/j.neulet.2005.03.033
2005

LRRK2 mutations are not common in Alzheimer's disease
Mechanisms of Ageing and Development
Toft, M. and Sando, S.B. and Melquist, S. and Ross, O.A. and White, L.R. and Aasly, J.O. and Farrer, M.J.
DOI: 10.1016/j.mad.2005.06.010
2005

The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
Neuroscience Letters
Tan, E.K. and Shen, H. and Tan, L.C.S. and Farrer, M. and Yew, K. and Chua, E. and Jamora, R.D. and Puvan, K. and Puong, K.Y. and Zhao, Y. and Pavanni, R. and Wong, M.C. and Yih, Y. and Skipper, L. and Liu, J.-J.
DOI: 10.1016/j.neulet.2005.04.103
2005

The Effect of tau genotype on clinical features in FTDP-17
Parkinsonism and Related Disorders
Baba, Y. and Tsuboi, Y. and Baker, M.C. and Uitti, R.J. and Hutton, M.L. and Dickson, D.W. and Farrer, M. and Putzke, J.D. and Woodruff, B.K. and Ghetti, B. and Murrell, J.R. and Boeve, B.F. and Petersen, R.C. and Verpillat, P. and Brice, A. and Delisle, M.-B. and Rascol, O. and Arima, K. and Dysken, M.W. and Yasuda, M. and Kobayashi, T. and Sunohara, N. and Komure, O. and Kuno, S. and Sperfeld, A.D. and Stoppe, G. and Kohlhase, J. and Pickering-Brown, S. and Neary, D. and Bugiani, O. and Wszolek, Z.K.
DOI: 10.1016/j.parkreldis.2005.01.003
2005

High-resolution whole-genome association study of Parkinson disease
American Journal of Human Genetics
Maraganore, D.M. and De Andrade, M. and Lesnick, T.C. and Strain, K.J. and Farrer, M.J. and Rocca, W.A. and Pant, P.V.K. and Frazer, K.A. and Cox, D.R. and Ballinger, D.C.
DOI: 10.1086/496902
2005

Clinical features of LRRK2-associated Parkinson's disease in Central Norway
Annals of Neurology
Aasly, J.O. and Toft, M. and Fernandez-Mata, I. and Kachergus, J. and Hulihan, M. and White, L.R. and Farrer, M.
DOI: 10.1002/ana.20456
2005

Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism
Journal of Neural Transmission
Krygowska-Wajs, A. and Kachergus, J.M. and Hulihan, M.M. and Farrer, M.J. and Searcy, J.A. and Booij, J. and Berendse, H.W. and Wolters, E.Ch. and Wszolek, Z.K.
DOI: 10.1007/s00702-005-0290-8
2005

Premutation alleles and fragile X-associated tremor/ataxia syndrome [5] (multiple letters)
Journal of the American Medical Association
Toft, M. and Farrer, M. and Deng, H. and Le, W. and Jankovic, J.
2005

Parkinsonism, FXTAS, and FMR1 premutations
Movement Disorders
Toft, M. and Aasly, J. and Bisceglio, G. and Adler, C.H. and Uitti, R.J. and Krygowska-Wajs, A. and Lynch, T. and Wszolek, Z.K. and Farrer, M.J.
DOI: 10.1002/mds.20297
2005

LRRK2 mutations in Parkinson disease
Neurology
Farrer, M. and Stone, J. and Mata, I.F. and Lincoln, S. and Kachergus, J. and Hulihan, M. and Strain, K.J. and Maraganore, D.M.
DOI: 10.1212/01.WNL.0000169023.51764.b0
2005

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
Archives of Neurology
Biancalana, V., Toft, M., Le Ber, I., Tison, F., Scherrer, E., Thibodeau, S., Mandel, J.L., Brice, A., Farrer, M.J., Dürr, A.
DOI: 10.1001/archneur.62.6.962
2005

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease
American Journal of Medical Genetics - Neuropsychiatric Genetics
Martinez, M., Brice, A., Vaughan, J.R., Zimprich, A., Breteler, M.M.B., Meco, G., Filla, A., Farrer, M.J., Bétard, C., Singleton, A., Hardy, J., De Michele, G., Bonifati, V., Oostra, B.A., Gasser, T., Wood, N.W., Dürr, A., Agid, Y., Bonnet, A.-M., Borg, M., Broussolle, E., Damier, Ph., Destée, A., Durif, F., Feingold, J., Fénelon, G., Lohmann, E., Penet, C., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Vidailhet, M., Warter, J.M., Nicholl, D., Müller-Myhsok, B., Harhangi, S., Fabrizio, E., Vanacore, N., Volpe, G.
DOI: 10.1002/ajmg.b.30196
2005

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism
Neuroscience Letters
Mata, I.F. and Alvarez, V. and Coto, E. and Blazquez, M. and Guisasola, L.M. and Salvador, C. and Kachergus, J.M. and Lincoln, S.J. and Farrer, M.
DOI: 10.1016/j.neulet.2005.01.051
2005

Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD
Parkinsonism and Related Disorders
Gosal, D. and Ross, O.A. and Wiley, J. and Irvine, G.B. and Johnston, J.A. and Toft, M. and Mata, I.F. and Kachergus, J. and Hulihan, M. and Taylor, J.P. and Lincoln, S.J. and Farrer, M.J. and Lynch, T. and Gibson, J.M.
DOI: 10.1016/j.parkreldis.2005.05.004
2005

Interaction of a-synuclein and tau genotypes in Parkinson's disease
Annals of Neurology
Mamah, C.E. and Lesnick, T.G. and Lincoln, S.J. and Strain, K.J. and De Andrade, M. and Bower, J.H. and Ahlskog, J.E. and Rocca, W.A. and Farrer, M.J. and Maraganore, D.M.
DOI: 10.1002/ana.20387
2005

Pathophysiology, pleotrophy and paradigm shifts: Genetic lessons from Parkinson's disease
Biochemical Society Transactions
Ross, O.A. and Farrer, M.J.
DOI: 10.1042/BST0330586
2005

PET in LRRK2 mutations: Comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation
Brain
Adams, J.R. and Van Netten, H. and Schulzer, M. and Mak, E. and Mckenzie, J. and Strongosky, A. and Sossi, V. and Ruth, T.J. and Lee, C.S. and Farrer, M. and Gasser, T. and Uitti, R.J. and Calne, D.B. and Wszolek, Z.K. and Stoessl, A.J.
DOI: 10.1093/brain/awh607
2005

Analysis of LRRK2 functional domains in nondominant Parkinson disease
Neurology
Skipper, L. and Shen, H. and Chua, E. and Bonnard, C. and Kolatkar, P. and Tan, L.C.S. and Jamora, R.D. and Puvan, K. and Puong, K.Y. and Zhao, Y. and Pavanni, R. and Wong, M.C. and Yuen, Y. and Farrer, M. and Liu, J.J. and Tan, E.K.
DOI: 10.1212/01.wnl.0000180517.70572.37
2005

LRRK2 mutations and Parkinsonism [4] (multiple letters)
Lancet
Toft, M. and Mata, I.F. and Kachergus, J.M. and Ross, O.A. and Farrer, M.J. and Albrecht, M.
DOI: 10.1016/S0140-6736(05)74809-1
2005

Tau kinases and Parkinson's disease: Guilt by association?
Annals of Neurology
Dickson, D.W. and Farrer, M.J.
DOI: 10.1002/ana.20764
2005

The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval
American Journal of Human Genetics
Zimprich, A., Müller-Myhsok, B., Farrer, M., Leitner, P., Sharma, M., Hulihan, M., Lockhart, P., Strongosky, A., Kachergus, J., Calne, D.B., Stoessl, J., Uitti, R.J., Pfeiffer, R.F., Trenkwalder, C., Homann, N., Ott, E., Wenzel, K., Asmus, F., Hardy, J., Wszolek, Z., Gasser, T.
DOI: 10.1086/380647
2004

Comparison of Kindreds with Parkinsonism and a-Synuclein Genomic Multiplications
Annals of Neurology
Farrer, M. and Kachergus, J. and Forno, L. and Lincoln, S. and Wang, D.-S. and Hulihan, M. and Maraganore, D. and Gwinn-Hardy, K. and Wszolek, Z. and Dickson, D. and Langston, J.W.
DOI: 10.1002/ana.10846
2004

Multiplication of the a-synuclein gene is not a common disease mechanism in Lewy body disease
Journal of Molecular Neuroscience
Lockhart, P.J. and Kachergus, J. and Lincoln, S. and Hulihan, M. and Bisceglio, G. and Thomas, N. and Dickson, D. and Farrer, M.J.
DOI: 10.1385/JMN:24:3:337
2004

Linkage disequilibrium and association of MAPT H1 in Parkinson disease
American Journal of Human Genetics
Skipper, L. and Wilkes, K. and Toft, M. and Baker, M. and Lincoln, S. and Hulihan, M. and Ross, O.A. and Hutton, M. and Aasly, J. and Farrer, M.
DOI: 10.1086/424492
2004

a-synuclein locus duplication as a cause of familial Parkinson's disease
Lancet
Chartier-Harlin, M.-C., Kachergus, J., Roumier, C., Mouroux, V., Douay, X., Lincoln, S., Levecque, C., Larvor, L., Andrieux, J., Hulihan, M., Waucquier, N., Defebvre, L., Amouyel, P., Farrer, M., Destée, A.
DOI: 10.1016/S0140-6736(04)17103-1
2004

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
Neuron
Zimprich, A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., Uitti, R.J., Calne, D.B., Stoessl, A.J., Pfeiffer, R.F., Patenge, N., Carbajal, I.C., Vieregge, P., Asmus, F., Müller-Myhsok, B., Dickson, D.W., Meitinger, T., Strom, T.M., Wszolek, Z.K., Gasser, T.
DOI: 10.1016/j.neuron.2004.11.005
2004

A limited role for DJ1 in Parkinson disease susceptibility
Neurology
Maraganore, D.M. and Wilkes, K. and Lesnick, T.G. and Strain, K.J. and De Andrade, M. and Rocca, W.A. and Bower, J.H. and Ahlskog, J.E. and Lincoln, S. and Farrer, M.J.
2004

Parkin genetics: One model for Parkinson's disease
Human Molecular Genetics
Mata, I.F. and Lockhart, P.J. and Farrer, M.J.
2004

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function.
Journal of medical genetics
Lockhart, P.J. and Lincoln, S. and Hulihan, M. and Kachergus, J. and Wilkes, K. and Bisceglio, G. and Mash, D.C. and Farrer, M.J.
2004

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Neurology
Wszolek, Z.K., Pfeiffer, R.F., Tsuboi, Y., Uitti, R.J., McComb, R.D., Stoessl, A.J., Strongosky, A.J., Zimprich, A., Müller-Myhsok, B., Farrer, M.J., Gasser, T., Calne, D.B., Dickson, D.W.
2004

a-Synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease
Neuroscience Letters
Hope, A.D. and Myhre, R. and Kachergus, J. and Lincoln, S. and Bisceglio, G. and Hulihan, M. and Farrer, M.J.
DOI: 10.1016/j.neulet.2004.05.100
2004

Clinical Findings in a Large Family with a Parkin Ex3¿40 Mutation
Archives of Neurology
Munhoz, R.P. and Sa, D.S. and Rogaeva, E. and Salehi-Rad, S. and Sato, C. and Medeiros, H. and Farrer, M. and Lang, A.E.
DOI: 10.1001/archneur.61.5.701
2004

Genome-wide analysis of the parkinsonism-dementia complex of Guam
Archives of Neurology
Morris, H.R., Steele, J.C., Crook, R., Wavrant-De Vrièze, F., Onstead-Cardinale, L., Gwinn-Hardy, K., Wood, N.W., Farrer, M., Lees, A.J., McGeer, P.L., Siddique, T., Hardy, J., Perez-Tur, J.
DOI: 10.1001/archneur.61.12.1889
2004

N-myc regulates parkin expression
Journal of Biological Chemistry
West, A.B., Kapatos, G., O'Farrell, C., Gonzalez-De-Chavez, F., Chiu, K., Farrer, M.J., Maidment, N.T.
DOI: 10.1074/jbc.M400126200
2004

Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
Movement Disorders
Wiley, J. and Lynch, T. and Lincoln, S. and Skipper, L. and Hulihan, M. and Gosal, D. and Bisceglio, G. and Kachergus, J. and Hardy, J. and Farrer, M.J.
DOI: 10.1002/mds.10703
2004

a-Synuclein promoter confers susceptibility to Parkinson's disease
Annals of Neurology
Pals, P. and Lincoln, S. and Manning, J. and Heckman, M. and Skipper, L. and Hulihan, M. and Van Den Broeck, M. and De Pooter, T. and Cras, P. and Crook, J. and Van Broeckhoven, C. and Farrer, M.J.
DOI: 10.1002/ana.20268
2004

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism
Movement Disorders
Lockhart, P.J. and Bounds, R. and Hulihan, M. and Kachergus, J. and Lincoln, S. and Lin, C.-H. and Wu, R.-M. and Farrer, M.J.
DOI: 10.1002/mds.20082
2004

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Movement Disorders
Furtado, S. and Payami, H. and Lockhart, P.J. and Hanson, M. and Nutt, J.G. and Singleton, A.A. and Singleton, A. and Bower, J. and Utti, R.J. and Bird, T.D. and de la Fuente-Fernandez, R. and Tsuboi, Y. and Klimek, M.L. and Suchowersky, O. and Hardy, J. and Calne, D.B. and Wszolek, Z.K. and Farrer, M. and Gwinn-Hardy, K. and Stoessl, A.J.
DOI: 10.1002/mds.20074
2004

Genetic association studies in Alzheimer's disease research: Challenges and opportunities
Statistics in Medicine
Edland, S.D. and Slager, S. and Farrer, M.
DOI: 10.1002/sim.1706
2004

Genome-wide scan linkage analysis for Parkinson's disease: The European genetic study of Parkinson's disease
Journal of Medical Genetics
Martinez, M., Brice, A., Vaughan, J.R., Zimprich, A., Breteler, M.M.B., Meco, G., Filla, A., Farrer, M.J., Bétard, C., Hardy, J., De Michele, G., Bonifati, V., Oostra, B., Gasser, T., Wood, N.W., Dürr, A.
DOI: 10.1136/jmg.2004.022632
2004

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG)
Movement Disorders
Lockhart, P.J., O'Farrell, C.A., Farrer, M.J.
DOI: 10.1002/mds.20000
2004

Identification of the Human Ubiquitin Specific Protease 31 (USP31) Gene: Structure, Sequence and Expression Analysis
DNA Sequence - Journal of DNA Sequencing and Mapping
Lockhart, P.J. and Hulihan, M. and Lincoln, S. and Hussey, J. and Skipper, L. and Bisceglio, G. and Wilkes, K. and Farrer, M.J.
DOI: 10.1080/10855660310001638197
2004

Case-control study of the a-synuclein interacting protein gene and Parkinson's disease
Movement Disorders
Maraganore, D.M. and Farrer, M.J. and Lesnick, T.G. and de Andrade, M. and Bower, J.H. and Hernandez, D. and Hardy, J.A. and Rocca, W.A.
DOI: 10.1002/mds.10547
2003

RING finger 1 mutations in Parkin produce altered localization of the protein
Human Molecular Genetics
Cookson, M.R., Lockhart, P.J., McLendon, C., O'Farrell, C., Schlossmacher, M., Farrer, M.J.
DOI: 10.1093/hmg/ddg328
2003

Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation
Movement Disorders
Tan, L.C. and Tanner, C.M. and Chen, R. and Chan, P. and Farrer, M. and Hardy, J. and Langston, J.W.
DOI: 10.1002/mds.10432
2003

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
Human Molecular Genetics
Marx, F.P., Holzmann, C., Strauss, K.M., Li, L., Eberhardt, O., Gerhardt, E., Cookson, M.R., Hernandez, D., Farrer, M.J., Kachergus, J., Engelender, S., Ross, C.A., Berger, K., Schöls, L., Schulz, J.B., Riess, O., Krüger, R.
DOI: 10.1093/hmg/ddg134
2003

Parkin variants in North American Parkinson's disease: Cases and controls
Movement Disorders
Lincoln, S.J. and Maraganore, D.M. and Lesnick, T.G. and Bounds, R. and de Andrade, M. and Bower, J.H. and Hardy, J.A. and Farrer, M.J.
DOI: 10.1002/mds.10601
2003

Identification of a novel gene linked to parkin via a bi-directional promoter
Journal of Molecular Biology
West, A.B., Lockhart, P.J., O'Farell, C., Farrer, M.J.
DOI: 10.1016/S0022-2836(02)01376-1
2003

Parkin is not regulated by the unfolded protein response in human neuroblastoma cells
Neuroscience Letters
West, A.B., Gonzalez-de-Chavez, F., Wilkes, K., O'Farrell, C., Farrer, M.J.
DOI: 10.1016/S0304-3940(03)00188-5
2003

Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci
Parkinsonism and Related Disorders
Krygowska-Wajs, A. and Hussey, J.M. and Hulihan, M. and Farrer, M.J. and Tsuboi, Y. and Uitti, R.J. and Wszolek, Z.K.
DOI: 10.1016/S1353-8020(02)00036-6
2003

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Neurology
Houlden, H. and Lincoln, S. and Farrer, M. and Cleland, P.G. and Hardy, J. and Orrell, R.W.
2003

Co-ordinate transcriptional regulation of dopamine synthesis genes by a-synuclein in human neuroblastoma cell lines
Journal of Neurochemistry
Baptista, M.J., O'Farrell, C., Daya, S., Ahmad, R., Miller, D.W., Hardy, J., Farrer, M.J., Cookson, M.R.
2003

Parkin-proven disease: Common founders but divergent phenotypes
Neurology
Lincoln, S. and Wiley, J. and Lynch, T. and Langston, J.W. and Chen, R. and Lang, A. and Rogaeva, E. and Sa, D.S. and Munhoz, R.P. and Harris, J. and Marder, K. and Klein, C. and Bisceglio, G. and Hussey, J. and West, A. and Hulihan, M. and Hardy, J. and Farrer, M.
2003

Identification of a novel gene linked to Parkin via a bidirectional promoter
Annals of the New York Academy of Sciences
Lockhart, P.J., West, A.B., O'Farrell, C.A., Farrer, M.J.
2003

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
Neurology
Rawal, N., Periquet, M., Lohmann, E., Lücking, C.B., Teive, H.A., Ambrosio, G., Raskin, S., Lincoln, S., Hattori, N., Guimaraes, J., Horstink, M.W.I.M., Dos Santos Bele, W., Brousolle, E., Destée, A., Mizuno, Y., Farrer, M., Deleuze, J.-F., De Michele, G., Agid, Y., Dürr, A., Brice, A.
2003

Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
Movement Disorders
Postuma, R.B. and Furukawa, Y. and Rogaeva, E. and St. George-Hyslop, P.H. and Farrer, M.J. and Lang, A.E.
2003

Hereditary tauopathies and parkinsonism.
Advances in neurology
Wszolek, Z.K. and Tsuboi, Y. and Farrer, M. and Uitti, R.J. and Hutton, M.L.
2003

SCA2 may present as levodopa-responsive parkinsonism
Movement Disorders
Payami, H. and Nutt, J. and Gancher, S. and Bird, T. and Gonzales McNeal, M. and Seltzer, W.K. and Hussey, J. and Lockhart, P. and Gwinn-Hardy, K. and Singleton, A.A. and Singleton, A.B. and Hardy, J. and Farrer, M.
DOI: 10.1002/mds.10375
2003

a-Synuclein Locus Triplication Causes Parkinson's Disease
Science
Singleton, A.B. and Farrer, M. and Johnson, J. and Singleton, A. and Hague, S. and Kachergus, J. and Hulihan, M. and Peuralinna, T. and Dutra, A. and Nussbaum, R. and Lincoln, S. and Crawley, A. and Hanson, M. and Maraganore, D. and Adler, C. and Cookson, M.R. and Muenter, M. and Baptista, M. and Miller, D. and Blancato, J. and Hardy, J. and Gwinn-Hardy, K.
DOI: 10.1126/science.1090278
2003

Complex interactions in Parkinson's disease: A two-phases approach
Movement Disorders
Maraganore, D.M. and de Andrade, M. and Lesnick, T.G. and Farrer, M.J. and Bower, J.H. and Hardy, J.A. and Rocca, W.A.
DOI: 10.1002/mds.10431
2003

Parkin protects against the toxicity associated with mutant a-Synuclein: Proteasome dysfunction selectively affects catecholaminergic neurons
Neuron
Petrucelli, L., O'Farrell, C., Lockhart, P.J., Baptista, M., Kehoe, K., Vink, L., Choi, P., Wolozin, B., Farrer, M., Hardy, J., Cookson, M.R.
DOI: 10.1016/S0896-6273(02)01125-X
2002

Tau neurotoxicity without the lesions: A fly challenges a tangled web
Trends in Neurosciences
De Silva, R. and Farrer, M.
DOI: 10.1016/S0166-2236(02)02170-7
2002

A family with a tau P301L mutation presenting with parkinsonism
Parkinsonism and Related Disorders
Walker, R.H. and Friedman, J. and Wiener, J. and Hobler, R. and Gwinn-Hardy, K. and Adam, A. and DeWolfe, J. and Gibbs, R. and Baker, M. and Farrer, M. and Hutton, M. and Hardy, J.
DOI: 10.1016/S1353-8020(02)00003-2
2002

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats
Genetic Testing
Hussey, J. and Lockhart, P.J. and Seltzer, W. and Wszolek, Z.K. and Payami, H. and Hanson, M. and Gwinn-Hardy, K. and Farrer, M.
DOI: 10.1089/109065702761403397
2002

Clinical, F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
Movement Disorders
Wu, R.-M. and Shan, D.-E. and Sun, C.-M. and Liu, R.-S. and Hwu, W.-L. and Tai, C.-H. and Hussey, J. and West, A. and Gwinn-Hardy, K. and Hardy, J. and Chen, J. and Farrer, M. and Lincoln, S.
DOI: 10.1002/mds.10184
2002

Complex relationship between Parkin mutations and Parkinson disease
American Journal of Medical Genetics - Neuropsychiatric Genetics
West, A., Periquet, M., Lincoln, S., Lücking, C.B., Nicholl, D., Bonifati, V., Rawal, N., Gasser, T., Lohmann, E., Deleuze, J.-F., Maraganore, D., Levey, A., Wood, N., Dürr, A., Hardy, J., Brice, A., Farrer, M.
DOI: 10.1002/ajmg.10525
2002

Functional association of the parkin gene promoter with idiopathic Parkinson's disease
Human Molecular Genetics
West, A.B. and Maraganore, D. and Crook, J. and Lesnick, T. and Lockhart, P.J. and Wilkes, K.M. and Kapatos, G. and Hardy, J.A. and Farrer, M.J.
2002

SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings
Neurology
Furtado, S., Farrer, M., Tsuboi, Y., Klimek, M.L., De la Fuente-Fernández, R., Hussey, J., Lockhart, P., Calne, D.B., Suchowersky, O., Stoessl, A.J., Wszolek, Z.K.
2002

Identifying genetic factors in Parkinson disease [6] (multiple letters)
Journal of the American Medical Association
Farrer, M. and Hardy, J. and Hutton, M. and Maraganore, D. and Tsuboi, Y. and Wszolek, Z.K. and Pericak-Vance, M.A. and Scott, W.K. and Martin, E.R. and Vance, J.M. and Haines, J.L.
2002

A multi-incident, old-order Amish family with PD
Neurology
Racette, B.A. and Rundle, M. and Wang, J.C. and Goate, A. and Saccone, N.L. and Farrer, M. and Lincoln, S. and Hussey, J. and Smemo, S. and Lin, J. and Suarez, B. and Parsian, A. and Perlmutter, J.S.
2002

The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population
Neuroscience Letters
Farrer, M. and Skipper, L. and Berg, M. and Bisceglio, G. and Hanson, M. and Hardy, J. and Adam, A. and Gwinn-Hardy, K. and Aasly, J.
2002

Two large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic study
Brain
Nicholl, D.J. and Vaughan, J.R. and Khan, N.L. and Ho, S.L. and Aldous, D.E.W. and Lincoln, S. and Farrer, M. and Gayton, J.D. and Davis, M.B. and Piccini, P. and Daniel, S.E. and Lennox, G.G. and Brooks, D.J. and Williams, A.C. and Wood, N.W.
2002

Case-control study of estrogen receptor gene polymorphism in Parkinson's disease
Movement Disorders
Maraganore, D.M. and Farrer, M.J. and McDonnell, S.K. and Elbaz, A. and Schaid, D.J. and Hardy, J.A. and Rocca, W.A.
DOI: 10.1002/mds.1253
2002

The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3
Gene
Lockhart, P.J. and Holtom, B. and Lincoln, S. and Hussey, J. and Zimprich, A. and Gasser, T. and Wszolek, Z.K. and Hardy, J. and Farrer, M.J.
DOI: 10.1016/S0378-1119(02)00402-X
2002

Parkinson's genetics: An embarrassment of riches
Annals of Neurology
Gwinn-Hardy, K. and Farrer, M.
DOI: 10.1002/ana.10091
2002

Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease
Movement Disorders
Goudreau, J.L. and Maraganore, D.M. and Farrer, M.J. and Lesnick, T.G. and Singleton, A.B. and Bower, J.H. and Hardy, J.A. and Rocca, W.A.
DOI: 10.1002/mds.10268
2002

Parkinson's genetics: Molecular insights for the new millennium
NeuroToxicology
Skipper, L. and Farrer, M.
DOI: 10.1016/S0161-813X(02)00038-4
2002

Erratum: Complex relationship between Parkin mutations and Parkinson disease (American Journal of Medical Genetics-Neuropsychocetric (2002) 114-(584-591))
American Journal of Medical Genetics - Neuropsychiatric Genetics
West, A., Periquet, M., Lincoln, S., Lücking, C.B., Nicholl, D., Bonifati, V., Rawal, N., Gasser, T., Lohmann, E., Deleuze, J.-F., Maraganore, D., Levey, A., Wood, N., Dürr, A., Hardy, J., Brice, A., Farrer, M.
DOI: 10.1002/ajmg.b.10918
2002

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
Movement Disorders
Subramony, S.H. and Hernandez, D. and Adam, A. and Smith-Jefferson, S. and Hussey, J. and Gwinn-Hardy, K. and Lynch, T. and McDaniel, O. and Hardy, J. and Farrer, M. and Singleton, A.
DOI: 10.1002/mds.10241
2002

Genetic risk factors: Session V summary and research needs
NeuroToxicology
Farrer, M. and Richfield, E.
DOI: 10.1016/S0161-813X(01)00087-0
2001

Identification and characterization of the human parkin gene promoter
Journal of Neurochemistry
West, A. and Farrer, M. and Petrucelli, L. and Cookson, M. and Lockhart, P. and Hardy, J.
DOI: 10.1046/j.1471-4159.2001.00512.x
2001

Lewy bodies and parkinsonism in families with parkin mutations
Annals of Neurology
Farrer, M. and Chan, P. and Chen, R. and Tan, L. and Lincoln, S. and Hernandez, D. and Forno, L. and Gwinn-Hardy, K. and Petrucelli, L. and Hussey, J. and Singleton, A. and Tanner, C. and Hardy, J. and Langston, J.W.
DOI: 10.1002/ana.1132
2001

Genetic analysis of synphilin-1 in familial Parkinson's disease
Neurobiology of Disease
Farrer, M., Destée, A., Levecque, C., Singleton, A., Engelender, S., Becquet, E., Mouroux, V., Richard, F., Defebvre, L., Crook, R., Hernandez, D., Ross, C.A., Hardy, J., Amouyel, P., Chartier-Harlin, M.-C.
DOI: 10.1006/nbdi.2000.0326
2001

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
European Journal of Human Genetics
West, A.B., Zimprich, A., Lockhart, P.J., Farrer, M., Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L., Müller-Myhsok, B., Wszolek, Z.K., Hardy, J., Gasser, T.
DOI: 10.1038/sj.ejhg.5200698
2001

Case-control study of the extended tau gene haplotype in Parkinson's disease
Annals of Neurology
Maraganore, D.M. and Hernandez, D.G. and Singleton, A.B. and Farrer, M.J. and McDonnell, S.K. and Hutton, M.L. and Hardy, J.A. and Rocca, W.A.
DOI: 10.1002/ana.1228
2001

Pathology of PD in monozygotic twins with a 20-year discordance interval
Neurology
Dickson, D. and Farrer, M. and Lincoln, S. and Mason, R.P. and Zimmerman Jr., T.R. and Golbe, L.I. and Hardy, J.
2001

Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family
Archives of Neurology
Gwinn-Hardy, K., Singleton, A., O'Suilleabhain, P., Boss, M., Nicholl, D., Adam, A., Hussey, J., Critchley, P., Hardy, J., Farrer, M.
2001

Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells
Molecular Brain Research
O'Farrell, C., Murphy, D.D., Petrucelli, L., Singleton, A.B., Hussey, J., Farrer, M., Hardy, J., Dickson, D.W., Cookson, M.R.
DOI: 10.1016/S0169-328X(01)00292-3
2001

Lack of nigral pathology in transgenic mice expressing human a-synuclein driven by the tyrosine hydroxylase promoter
Neurobiology of Disease
Matsuoka, Y. and Vila, M. and Lincoln, S. and McCormack, A. and Picciano, M. and LaFrancois, J. and Yu, X. and Dickson, D. and Langston, W.J. and McGowan, E. and Farrer, M. and Hardy, J. and Duff, K. and Przedborski, S. and Di Monte, D.A.
DOI: 10.1006/nbdi.2001.0392
2001

Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects
American Journal of Human Genetics
Periquet, M., Lücking, C.B., Vaughan, J.R., Bonifati, V., ürr, A., De Michele, G., Horstink, M.W., Farrer, M., Illarioshkin, S.N., Pollak, P., Borg, M., Brefel-Courbon, C., Denefle, P., Gasser, T., Gasser, T., Breteler, M.M.B., Wood, N.W., Agid, Y., Brice, A., Agid, Y., Bonnet, A.-M., Borg, M., Brice, A., Destée, A., Dürr, F., Durif, F., Feingold, J., Fénelon, G., Gasparini, F., Martinez, M., Penet, C., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Vidailhet, M., Warter, J.-M., Wood, N.W., Vaughan, J.R., Brice, A., Dürr, A., Martinez, M., Agid, Y., Gasser, T., Müller-Myhsok, B., Breteler, M., Harhangi, S., Oostra, B., Bonifati, M., DeMari, M., Fabrizio, E., Filla, A., Meco, G.
DOI: 10.1086/318791
2001

a-synuclein gene haplotypes are associated with Parkinson's disease
Human Molecular Genetics
Farrer, M. and Maraganore, D.M. and Lockhart, P. and Singleton, A. and Lesnick, T.G. and De Andrade, M. and West, A. and De Silva, R. and Hardy, J. and Hernandez, D.
2001

Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
Human Genetics
Baptista, M.J. and Fairbrother, U.L. and Howard, C.M. and Farrer, M.J. and Davies, G.E. and Trikka, D. and Maratou, K. and Redington, A. and Greve, G. and Njolstad, P.R. and Kessling, A.M.
DOI: 10.1007/s004390000395
2000

Case-control study of debrisoquine 4-hydroxylase, N-acetyltransferase 2, and apolipoprotein E gene polymorphisms in Parkinson's disease
Movement Disorders
Maraganore, D.M. and Farrer, M.J. and Hardy, J.A. and McDonnell, S.K. and Schaid, D.J. and Rocca, W.A.
DOI: 10.1002/1531-8257(200007)15:4<714::AID-MDS1018>3.0.CO;2-3
2000

Distinctive neuropathology revealed by a-synuclein antibodies in hereditary parkonsonism and dementia linked to chromosome 4p
Acta Neuropathologica
Gwinn-Hardy, K. and Mehta, N.D. and Farrer, M. and Maraganore, D. and Muenter, M. and Yen, S.-H. and Hardy, J. and Dickson, D.W.
2000

The genetic causes of the tau and synucleinopathies
NeuroScience News
Hardy, J. and Hutton, M. and Farrer, M. and Crook, R.
2000

The A53T a-synuclein mutation increases iron-dependent aggregation and toxicity
Journal of Neuroscience
Ostrerova-Golts, N. and Petrucelli, L. and Hardy, J. and Lee, J.M. and Farer, M. and Wolozin, B.
2000

Sensitization of neuronal cells to oxidative stress with mutated human a-synuclein
Journal of Neurochemistry
Ko, L.-W. and Mehta, N.D. and Farrer, M. and Easson, C. and Hussey, J. and Yen, S. and Hardy, J. and Yen, S.-H.C.
DOI: 10.1046/j.1471-4159.2000.0752546.x
2000

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
Neurology
Gwinn-Hardy, K. and Chen, J.Y. and Liu, H.-C. and Liu, T.Y. and Boss, M. and Seltzer, W. and Adam, A. and Singleton, A. and Koroshetz, W. and Waters, C. and Hardy, J. and Farrer, M.
2000

Linkage exclusion in French families with probable Parkinson's disease
Movement Disorders
Farrer, M., Destée, A., Becquet, E., Vrièze, F.W.-D., Mouroux, V., Richard, F., Defebvre, L., Lincoln, S., Hardy, J., Amouyel, P., Chartier-Harlin, M.-C.
DOI: 10.1002/1531-8257(200011)15:6<1075::AID-MDS1004>3.0.CO;2-2
2000

A kindred with Parkinson's disease not showing genetic linkage to established loci
Neurology
Gwinn-Hardy, K.A. and Crook, R. and Lincoln, S. and Adler, C.H. and Caviness, J.N. and Hardy, J. and Farrer, M.
2000

No pathogenic mutations in the persyn gene in Parkinson's disease
Neuroscience Letters
Lincoln, S., Gwinn-Hardy, K., Goudreau, J., Christine Chartier-Harlin, M., Baker, M., Mouroux, V., Richard, F., Destée, A., Becquet, E., Amouyel, P., Lynch, T., Hardy, J., Farrer, M.
DOI: 10.1016/S0304-3940(98)00901-X
1999

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
Neurology
Maraganore, D.M. and Farrer, M.J. and Hardy, J.A. and Lincoln, S.J. and McDonnell, S.K. and Rocca, W.A.
1999

No pathogenic mutations in the ß-synuclein gene in Parkinson's disease
Neuroscience Letters
Lincoln, S., Crook, R., Chartier-Harlin, M.C., Gwinn-Hardy, K., Baker, M., Mouroux, V., Richard, F., Becquet, E., Amouyel, P., Destée, A., Hardy, J., Farrer, M.
DOI: 10.1016/S0304-3940(99)00420-6
1999

a-Synuclein shares physical and functional homology with 14-3-3 proteins
Journal of Neuroscience
Ostrerova, N. and Petrucelli, L. and Farrer, M. and Mehta, N. and Choi, P. and Hardy, J. and Wolozin, B.
1999

The genetics of disorders with synuclein pathology and parkinsonism
Human Molecular Genetics
Farrer, M. and Gwinn-Hardy, K. and Hutton, M. and Hardy, J.
DOI: 10.1093/hmg/8.10.1901
1999

Widespread alterations of a-synuclein in multiple system atrophy
American Journal of Pathology
Dickson, D.W., Liu, W.-K., Hardy, J., Farrer, M., Mehta, N., Uitti, R., Mark, M., Zimmerman, T., Golbe, L., Sage, J., Sima, A., D'Amato, C., Albin, R., Gilman, S., Yen, S.-H.
1999

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
Neuroscience Letters
Harhangi, B.S., Farrer, M.J., Lincoln, S., Bonifati, V., Meco, G., De Michele, G., Brice, A., Dürr, A., Martinez, M., Gasser, T., Bereznai, B., Vaughan, J.R., Wood, N.W., Hardy, J., Oostra, B.A., Breteler, M.M.B.
DOI: 10.1016/S0304-3940(99)00465-6
1999

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
Human Molecular Genetics
Farrer, M. and Gwinn-Hardy, K. and Muenter, M. and DeVrieze, F.W. and Crook, R. and Perez-Tur, J. and Lincoln, S. and Maraganore, D. and Adler, C. and Newman, S. and MacElwee, K. and McCarthy, P. and Miller, C. and Waters, C. and Hardy, J.
DOI: 10.1093/hmg/8.1.81
1999

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease
NeuroReport
Lincoln, S. and Vaughan, J. and Wood, N. and Baker, M. and Adamson, J. and Gwinn-Hardy, K. and Lynch, T. and Hardy, J. and Farrer, M.
1999

Low frequency of a-synuclein mutations in familial Parkinson's disease
Annals of Neurology
Farrer, M. and Wavrant-De Vrieze, F. and Crook, R. and Boles, L. and Perez-Tur, J. and Hardy, J. and Johnson, W.G. and Steele, J. and Maraganore, D. and Gwinn, K. and Lynch, T.
DOI: 10.1002/ana.410430320
1998

Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with lewy body parkinsonism
American Journal of Medical Genetics - Neuropsychiatric Genetics
Hardy, J., Pérez-Tur, J., Baker, M., Farrer, M., Crook, R., Hutton, M., Johnson, W.G., Gwinn, K., Muenter, M., Rocca, W.A., Maraganore, D.
DOI: 10.1002/(SICI)1096-8628(19980328)81:2<166::AID-AJMG8>3.0.CO;2-U
1998

Molecular mapping of Alzheimer-type dementia in Down's syndrome
Annals of Neurology
Prasher, V.P. and Farrer, M.J. and Kessling, A.M. and Fisher, E.M.C. and West, R.J. and Barber, P.C. and Butler, A.C.
DOI: 10.1002/ana.410430316
1998

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
Nature Medicine
Crook, R., Verkkoniemi, A., Perez-Tur, J., Mehta, N., Baker, M., Houlden, H., Farrer, M., Hutton, M., Lincoln, S., Hardy, J., Gwinn, K., Somer, M., Paetau, A., Kalimo, H., Ylikoski, R., Pöyhönen, M., Kucera, S., Haltia, M.
DOI: 10.1038/nm0498-452
1998

Erratum: Genetics of Parkinson's disease (Science (November 14, 1997) (1213))
Science
Lynch, T. and Farrer, M. and Hutton, M. and Hardy, J.
1997

Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome
NeuroReport
Farrer, M.J. and Crayton, L. and Davies, G.E. and Oliver, C. and Powell, J. and Holland, A.J. and Kessling, A.M.
1997

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22
Annals of Neurology
Baker, M. and Kwok, J.B.J. and Kucera, S. and Crook, R. and Farrer, M. and Houlden, H. and Isaacs, A. and Lincoln, S. and Onstead, L. and Hardy, J. and Wittenberg, L. and Dodd, P. and Webb, S. and Hayward, N. and Tannenberg, T. and Andreadis, A. and Hallupp, M. and Schofield, P. and Dark, F. and Hutton, M.
DOI: 10.1002/ana.410420516
1997

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)
Annals of Human Genetics
DAVIES, G.E. and HOWARD, C.M. and FARRER, M.J. and COLEMAN, M.M. and BENNETT, L.B. and CULLEN, L.M. and WYSE, R.K.H. and BURN, J. and WILLIAMSON, R. and KESSLING, A.M.
DOI: 10.1111/j.1469-1809.1995.tb00746.x
1995

Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects
Human Genetics
Davies, G.E. and Howard, C.M. and Farrer, M.J. and Coleman, M.M. and Cullen, L.M. and Williamson, R. and Wyse, R.K.H. and Kessling, A.M.
DOI: 10.1007/BF00201672
1994

The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21
Annals of Human Genetics
KHAN, I.M. and FISHER, R.A. and JOHNSON, K.J. and BAILEY, M.E.S. and SICILIANO, M.J. and KESSLING, A.M. and FARRER, M. and CARRITT, B. and KAMALATI, T. and BULUWELA, L.
DOI: 10.1111/j.1469-1809.1994.tb00723.x
1994

Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect
American Journal of Human Genetics
Howard, C.M. and Davies, G.E. and Farrer, M.J. and Cullen, L.M. and Coleman, M.M. and Williamson, R. and Wyse, R.K.H. and Palmer, R. and Kessling, A.M.
1993

Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome
Human Genetics
Davies, G.E. and Howard, C.M. and Gorman, L.M. and Farrer, M.J. and Holland, A.J. and Williamson, R. and Kessling, A.M.
DOI: 10.1007/BF00217452
1993