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

Doubts about TMEM230 as a gene for parkinsonism
Nature Genetics
Matt J. Farrer
DOI: 10.1038/s41588-019-0354-6
03/2019

Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice
npj Parkinson's Disease
Stefano Cataldi and Jordan Follett and Jesse D. Fox and Igor Tatarnikov and Chelsie Kadgien and Emil K. Gustavsson and Jaskaran Khinda and Austen J. Milnerwood and Matthew J. Farrer
DOI: 10.1038/s41531-018-0063-3
12/2018

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
DOI: 10.1016/j.neurobiolaging.2016.09.022
2017

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2017.05.022
2017

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
Brain : a journal of neurology
DOI: 10.1093/brain/aww261
2017

SCA2 family presenting as typical Parkinson's disease: 34 year follow up
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2017.04.003
2017

Gender differences in Parkinson's disease depression
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.12.026
2017

Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies
The Lancet Neurology
DOI: 10.1016/S1474-4422(17)30056-X
2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2017.05.016
2017

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
Brain
DOI: 10.1093/brain/awx077
2017

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study
The Lancet Neurology
DOI: 10.1016/S1474-4422(16)30203-4
2016

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease
Movement Disorders
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
DOI: 10.1016/j.jneuroim.2016.01.005
2016

Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3ß activity
Human Molecular Genetics
DOI: 10.1093/hmg/ddw068
2016

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
DOI: 10.1002/mds.26450
2016

Leucine-rich repeat kinase 2 (LRRK2) regulates a-synuclein clearance in microglia
BMC Neuroscience
DOI: 10.1186/s12868-016-0315-2
2016

Conjugal parkinsonism – Clinical, pathology and genetic study. No evidence of person-to-person transmission
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.07.011
2016

Conjugal parkinsonism is coincidental
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.10.004
2016

a-synuclein genetic variability: A biomarker for dementia in Parkinson disease
Annals of Neurology
DOI: 10.1002/ana.24664
2016

DCTN1 p.K56R in progressive supranuclear palsy
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.04.025
2016

Novel LRRK2 mutations in Parkinsonism
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2015.07.011
2015

Motor phenotype of LRRK2-associated Parkinson's disease: A tunisian longitudinal study
Movement Disorders
DOI: 10.1002/mds.26097
2015

[<sup>11</sup>C] PBR28 PET imaging is sensitive to neuroinflammation in the aged rat
Journal of Cerebral Blood Flow and Metabolism
DOI: 10.1038/jcbfm.2015.54
2015

LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory
Human Molecular Genetics
DOI: 10.1093/hmg/ddu543
2015

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
European Journal of Neurology
DOI: 10.1111/ene.12770
2015

Defining neurodegeneration on Guam by targeted genomic sequencing
Annals of Neurology
DOI: 10.1002/ana.24346
2015

Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson's disease
The Lancet Neurology
DOI: 10.1016/S1474-4422(15)00186-6
2015

Familial aggregation of Parkinson's disease in the Faroe Islands
Movement Disorders
DOI: 10.1002/mds.26132
2015

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
DOI: 10.1016/j.parkreldis.2015.07.025
2015

Head injury, a-synuclein genetic variability and Parkinson's disease
European Journal of Neurology
DOI: 10.1111/ene.12585
2015

Parkinsonism in GTP cyclohydrolase 1 mutation carriers
Brain
DOI: 10.1093/brain/awu341
2015

Genetic variability of the retromer cargo recognition complex in parkinsonism
Movement Disorders
DOI: 10.1002/mds.26104
2015

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Neurology
DOI: 10.1212/WNL.0000000000002016
2015

Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N
Human Molecular Genetics
DOI: 10.1093/hmg/ddu582
2015

DNAJC13 genetic variants in parkinsonism
Movement Disorders
DOI: 10.1002/mds.26064
2015

Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice
Neurobiology of Disease
DOI: 10.1016/j.nbd.2015.02.031
2015

Parkinson's disease, genetic variability and the Faroe Islands
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2014.10.027
2015

LRRK2 exonic variants and risk of multiple system atrophy
Neurology
2014

The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2013.07.013
2014

DNAJC13 mutations in Parkinson disease
Human molecular genetics
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
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
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
DOI: 10.3389/fncel.2014.00301
2014

A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy
Movement Disorders
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
DOI: 10.1016/j.neurobiolaging.2013.11.015
2014

Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism
Movement Disorders
DOI: 10.1002/mds.26019
2014

Identification of FUS p.R377W in essential tremor
European Journal of Neurology
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
DOI: 10.1038/gim.2014.55
2014

Genetics and genomics of Parkinson's disease
Genome Medicine
DOI: 10.1186/gm566
2014

Mutant COQ2 in multiple-system atrophy [3]
New England Journal of Medicine
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
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
DOI: 10.1016/j.parkreldis.2014.02.021
2014

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers
Movement Disorders
DOI: 10.1002/mds.25893
2014

Disease penetrance of late-onset parkinsonism: A meta-analysis
JAMA Neurology
DOI: 10.1001/jamaneurol.2014.1909
2014

LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance
Neurology
DOI: 10.1212/WNL.0000000000000675
2014

Advances in the genetics of Parkinson disease
Nature Reviews Neurology
DOI: 10.1038/nrneurol.2013.132
2013

STX6 rs1411478 is not associated with increased risk of Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2013.01.019
2013

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.25421
2013

LRRK2 phosphorylates novel tau epitopes and promotes tauopathy
Acta Neuropathologica
DOI: 10.1007/s00401-013-1188-4
2013

The genetics of Parkinson's disease: Progress and therapeutic implications
Movement Disorders
DOI: 10.1002/mds.25249
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
DOI: 10.1016/B978-0-12-800044-1.00106-9
2013

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia
Acta Neuropathologica
DOI: 10.1007/s00401-012-1059-4
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
DOI: 10.1016/B978-0-12-800044-1.00144-6
2013

Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium
Movement Disorders
DOI: 10.1002/mds.25600
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
DOI: 10.1038/jcbfm.2012.120
2013

Measuring dopaminergic function in the 6-OHDA-lesioned rat: A comparison of PET and microdialysis
EJNMMI Research
DOI: 10.1186/2191-219X-3-69
2013

Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients
Movement Disorders
DOI: 10.1002/mds.25637
2013

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2012-101155
2012

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database
PLoS Genetics
DOI: 10.1371/journal.pgen.1002548
2012

LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors
Molecular Neurodegeneration
DOI: 10.1186/1750-1326-7-25
2012

Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.10.009
2012

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.11.019
2012

Large-scale replication and heterogeneity in Parkinson disease genetic loci
Neurology
DOI: 10.1212/WNL.0b013e318264e353
2012

Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: A case control study
BMC Medical Genetics
DOI: 10.1186/1471-2350-13-16
2012

PARK2 variability in Polish Parkinson's disease patients - interaction with mitochondrial haplogroups
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2012.01.021
2012

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
DOI: 10.1136/jnnp-2011-301413
2012

VPS35 mutations in parkinson disease
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.06.001
2011

Common variants in PARK loci and related genes and Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.23376
2011

Glucocerebrosidase mutations in diffuse Lewy body disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.09.009
2011

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2009.11.021
2011

Erratum: VPS35 mutations in Parkinson disease (American Journal of Human Genetics (2011) 89 (162-167))
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.07.018
2011

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Nature Genetics
DOI: 10.1038/ng.859
2011

Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2011.05.024
2011

Parkinson-related genetics in patients treated with deep brain stimulation
Acta Neurologica Scandinavica
DOI: 10.1111/j.1600-0404.2010.01387.x
2011

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy
Neurology
DOI: 10.1212/WNL.0b013e31820c30c1
2011

Death-associated protein kinase 1 variation and Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2010.03255.x
2011

Call for participation in the neurogenetics consortium within the Human Variome Project
Neurogenetics
DOI: 10.1007/s10048-011-0287-4
2011

Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.05.003
2011

Translation initiator EIF4G1 mutations in familial parkinson disease
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.08.009
2011

Subclinical signs in LRRK2 mutation carriers
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.04.014
2011

Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death
Human Mutation
DOI: 10.1002/humu.21582
2011

Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice
Neurobiology of Disease
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
DOI: 10.1002/ana.22321
2011

Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddr077
2011

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: A case-control study
The Lancet Neurology
DOI: 10.1016/S1474-4422(11)70175-2
2011

Genetic variants of a-synuclein are not associated with essential tremor
Movement Disorders
DOI: 10.1002/mds.23909
2011

SNCA, MAPT, and GSK3B in Parkinson disease: A gene-gene interaction study
European Journal of Neurology
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
DOI: 10.1371/journal.pgen.1002171
2011

A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Neurology
DOI: 10.1212/WNL.0b013e318219fb42
2011

Genealogical studies in LRRK2-associated Parkinson's disease in central Norway
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.05.005
2010

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.23265
2010

a-synuclein gene may interact with environmental factors in increasing risk of Parkinson's disease
Neuroepidemiology
DOI: 10.1159/000315157
2010

LINGO1 rs9652490 is associated with essential tremor and Parkinson disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2009.08.006
2010

LRRK2 and Parkinson disease
Archives of Neurology
DOI: 10.1001/archneurol.2010.79
2010

Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease
Mechanisms of Ageing and Development
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
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
DOI: 10.1016/j.parkreldis.2010.09.007
2010

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease
Neuroscience Letters
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
DOI: 10.1002/ana.21786
2010

Dopamine turnover increases in asymptomatic LRRK2 mutations carriers
Movement Disorders
DOI: 10.1002/mds.23356
2010

Parkinson disease: Parkinson disease-moving beyond association
Nature Reviews Neurology
DOI: 10.1038/nrneurol.2010.69
2010

An independent replication of park16 in asian samples
Neurology
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
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
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
DOI: 10.1111/j.1399-0004.2009.01356.x
2010

LRRK2 variation and Parkinson's disease in African Americans
Movement Disorders
DOI: 10.1002/mds.23163
2010

LRRK2 and Parkinson's Disease
Blue Books of Neurology
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
DOI: 10.1002/mds.23283
2010

Glucocerebrosidase mutations are not a common risk factor for parkinson disease in North Africa
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.11.066
2010

Association of pyridoxal kinase and parkinson disease
Annals of Neurology
DOI: 10.1002/ana.21962
2010

Autonomic failures in Perry syndrome with DCTN1 mutation
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.07.001
2010

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
Neurogenetics
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
DOI: 10.1016/j.nbd.2010.07.010
2010

Elucidating the genetics and pathology of Perry syndrome
Journal of the Neurological Sciences
DOI: 10.1016/j.jns.2009.08.044
2010

Missing pieces in the Parkinson's disease puzzle
Nature Medicine
DOI: 10.1038/nm.2165
2010

Calbindin-1 association and Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2009.02769.x
2010

A comparative study of Lrrk2 function in primary neuronal cultures
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.08.018
2010

a-synuclein suppression by targeted small interfering rna in the primate substantia nigra
PLoS ONE
DOI: 10.1371/journal.pone.0012122
2010

Association of the MAPT locus with Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2009.02847.x
2010

Association of a-, ß-, and ¿-synuclein with diffuse lewy body disease
Archives of Neurology
DOI: 10.1001/archneurol.2010.177
2010

DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.05.084
2009

GCH1 in early-onset Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.22729
2009

Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome
Mayo Clinic Proceedings
DOI: 10.4065/84.2.134
2009

Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy
Movement Disorders
DOI: 10.1002/mds.22614
2009

Evaluation of gastric emptying in familial and sporadic Parkinson disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2009.04.003
2009

Characterization of DCTN1 genetic variability in neurodegeneration
Neurology
DOI: 10.1212/WNL.0b013e3181a92c4c
2009

GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2009.02621.x
2009

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism
Movement Disorders
DOI: 10.1002/mds.22093
2009

Dopamine transporter genetic variants and pesticides in Parkinson's disease
Environmental Health Perspectives
DOI: 10.1289/ehp.0800277
2009

DCTN1 mutations in Perry syndrome
Nature Genetics
DOI: 10.1038/ng.293
2009

ATP13A2 variability in Parkinson disease
Human Mutation
DOI: 10.1002/humu.20877
2009

Phactr2 and Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.02.009
2009

Genetic factors influencing age at onset in LRRK2-linked Parkinson disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.10.008
2009

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.09.001
2009

Reported mutations in GIGYF2 are not a common cause of Parkinson's disease
Movement Disorders
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
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
DOI: 10.1002/mds.22442
2009

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.08.002
2009

Glucosidase-beta variations and Lewy body disorders
Parkinsonism and Related Disorders
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
DOI: 10.1016/j.parkreldis.2008.11.009
2009

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
New England Journal of Medicine
DOI: 10.1056/NEJMoa0901281
2009

Expanding the clinical phenotype of SNCA duplication carriers
Movement Disorders
DOI: 10.1002/mds.22682
2009

GCH1 expression in human cerebellum from healthy individuals is not gender dependant
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.06.082
2009

Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Movement Disorders
DOI: 10.1002/mds.22795
2009

Meis1 p.r272h in familial restless legs syndrome
Neurology
DOI: 10.1212/WNL.0b013e3181ae7c79
2009

Pallidonigral TDP-43 pathology in Perry syndrome
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.07.005
2009

Fine-mapping and candidate gene investigation within the PARK10 locus
European Journal of Human Genetics
DOI: 10.1038/ejhg.2008.187
2009

Susceptibility genes for restless legs syndrome are not associated with Parkinson disease
Neurology
DOI: 10.1212/01.wnl.0000317101.67684.e3
2008

Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2007.11.013
2008

LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: Clinical, PET, and functional studies
Journal of Biomedical Science
DOI: 10.1007/s11373-008-9260-0
2008

a-Synuclein, pesticides, and Parkinson disease: A case-control study
Neurology
DOI: 10.1212/01.wnl.0000304049.31377.f2
2008

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.21405
2008

The ancestry of LRRK2 Gly2019Ser parkinsonism - Authors' reply
The Lancet Neurology
DOI: 10.1016/S1474-4422(08)70179-0
2008

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

Genetics of Parkinson's Disease
Parkinson's Disease
DOI: 10.1016/B978-0-12-374028-1.00002-6
2008

In vivo silencing of alpha-synuclein using naked siRNA
Molecular Neurodegeneration
DOI: 10.1186/1750-1326-3-19
2008

Progression of dopaminergic dysfunction in a LRRK2 kindred: A multitracer PET study
Neurology
DOI: 10.1212/01.wnl.0000335973.66333.58
2008

Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel
Journal of Neural Transmission
DOI: 10.1007/s00702-008-0074-z
2008

A genetic risk factor for periodic limb movements in sleep [7]
New England Journal of Medicine
DOI: 10.1056/NEJMc072518
2008

Genetic variation of Omi/HtrA2 and Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.08.003
2008

Genomic investigation of a-synuclein multiplication and parkinsonism
Annals of Neurology
DOI: 10.1002/ana.21380
2008

SLCO1B1 variants and statin-induced myopathy - A genomewide study
New England Journal of Medicine
DOI: 10.1056/NEJMoa0801936
2008

Genetic association study of synphilin-1 in idiopathic Parkinson's disease
BMC Medical Genetics
DOI: 10.1186/1471-2350-9-19
2008

PINK1 mutations and parkinsonism
Neurology
DOI: 10.1212/01.wnl.0000323812.40708.1f
2008

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5
Neurology
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
DOI: 10.1111/j.1600-0404.2008.01019.x
2008

Dopamine ß-hydroxylase -1021C>T association and Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.07.002
2008

LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study
The Lancet Neurology
DOI: 10.1016/S1474-4422(08)70116-9
2008

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
Neurology
DOI: 10.1212/01.wnl.0000304044.22253.03
2008

Familial genes in sporadic disease: Common variants of a-synuclein gene associate with Parkinson's disease
Mechanisms of Ageing and Development
DOI: 10.1016/j.mad.2007.04.002
2007

Aprataxin (APTX) gene mutations resembling multiple system atrophy
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2006.08.010
2007

Phenotypic associations of tau and ApoE in Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2006.12.008
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
DOI: 10.1086/513320
2007

Identification of potential protein interactors of Lrrk2
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2007.01.008
2007

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2007.01.010
2007

a-synuclein and Parkinson disease susceptibility
Neurology
DOI: 10.1212/01.wnl.0000275524.15125.f4
2007

MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
Journal of Neuroscience Research
DOI: 10.1002/jnr.21240
2007

Lrrk2 mutations in South America: A study of Chilean Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2007.06.021
2007

A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease
Neuroscience
DOI: 10.1016/j.neuroscience.2007.05.027
2007

Lrrk2 in the limelight!
Neurology
DOI: 10.1212/01.wnl.0000279588.20391.88
2007

Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2007.04.003
2007

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred [9]
Movement Disorders
DOI: 10.1002/mds.21200
2007

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
Neurology
DOI: 10.1212/01.wnl.0000254458.17630.c5
2007

Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
Neuroscience Letters
DOI: 10.1016/j.neulet.2007.02.020
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
DOI: 10.1007/s00702-007-0632-9
2007

PINK1 mutation heterozygosity and the risk of Parkinson's disease
Journal of Neurology, Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2006.097840
2007

Beta-synuclein gene variants and Parkinson's disease: A preliminary case-control study
Neuroscience Letters
DOI: 10.1016/j.neulet.2007.05.021
2007

Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
Acta Neuropathologica
DOI: 10.1007/s00401-006-0178-1
2007

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.21217
2007

ELAVL4, PARK10, and the celts
Movement Disorders
DOI: 10.1002/mds.21336
2007

Leucine-rich repeat kinase 1: A paralog of LRRK2 and a candidate gene for Parkinson's disease
Neurogenetics
DOI: 10.1007/s10048-006-0075-8
2007

LRRK2 and Parkinson's disease in Norway
Acta Neurologica Scandinavica
DOI: 10.1111/j.1600-0404.2007.00852.x
2007

The ups and downs of a-synuclein mRNA expression [12]
Movement Disorders
DOI: 10.1002/mds.21223
2007

Common variants in Parkinson's disease [2]
Movement Disorders
DOI: 10.1002/mds.21463
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
DOI: 10.1016/j.nbd.2007.04.014
2007

Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis
Journal of Neural Transmission
DOI: 10.1007/s00702-006-0525-3
2007

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2006.12.001
2007

Quantitative PCR-based screening of a-synuclein multiplication in multiple system atrophy
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2006.12.005
2007

Clinical and pathologic features of families with LRRK2-associated Parkinson's disease
Journal of Neural Transmission, Supplement
2006

Parkinson's disease: A rethink of rodent models
Experimental Brain Research
DOI: 10.1007/s00221-006-0461-3
2006

LRRK2 in Parkinson's disease: protein domains and functional insights
Trends in Neurosciences
DOI: 10.1016/j.tins.2006.03.006
2006

Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinsons's disease patients from 18 countries
Movement Disorders
DOI: 10.1002/mds.20886
2006

Genomewide association, Parkinson disease, and PARK10 [3]
American Journal of Human Genetics
DOI: 10.1086/504728
2006

LRRK2: A common pathway for parkinsonism, pathogenesis and prevention?
Trends in Molecular Medicine
DOI: 10.1016/j.molmed.2005.12.004
2006

Biochemical and pathological characterization of Lrrk2
Annals of Neurology
DOI: 10.1002/ana.20791
2006

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
Archives of Neurology
DOI: 10.1001/archneur.63.9.1250
2006

Clinical heterogeneity of the LRRK2 G2019S mutation
Archives of Neurology
DOI: 10.1001/archneur.63.9.1242
2006

Collaborative analysis of a-synuclein gene promoter variability and Parkinson disease
Journal of the American Medical Association
DOI: 10.1001/jama.296.6.661
2006

Clinical heterogeneity of a-synuclein gene duplication in Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.20753
2006

Genetics of restless legs syndrome
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2005.08.006
2006

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population
Neurology
DOI: 10.1212/01.wnl.0000196492.80676.7c
2006

Lrrk2 and Lewy body disease
Annals of Neurology
DOI: 10.1002/ana.20731
2006

Atypical Parkinsonism and SCA8
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2006.06.001
2006

Genetics of Parkinson disease: Paradigm shifts and future prospects
Nature Reviews Genetics
DOI: 10.1038/nrg1831
2006

Phenotypic commonalities in familial and sporadic Parkinson disease
Archives of Neurology
DOI: 10.1001/archneur.63.4.579
2006

Anatomical localization of leucine-rich repeat kinase 2 in mouse brain
Neuroscience
DOI: 10.1016/j.neuroscience.2006.01.017
2006

Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2
Neuroscience Letters
DOI: 10.1016/j.neulet.2006.06.068
2006

LRRK2 mutations are a common cause of Parkinson's disease in Spain
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2006.01256.x
2006

Parkinsonism, Lrrk2 G2019S, and tau neuropathology
Neurology
DOI: 10.1212/01.wnl.0000240220.33950.0c
2006

Lrrk2 R1441 substitution and progressive supranuclear palsy
Neuropathology and Applied Neurobiology
DOI: 10.1111/j.1365-2990.2006.00693.x
2006

LRRK2 gene and tremor-dominant Parkinsonism [4]
Archives of Neurology
2006

Premutation alleles and fragile X-associated tremor/ataxia syndrome [5] (multiple letters)
Journal of the American Medical Association
2005

Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism
Journal of Neural Transmission
DOI: 10.1007/s00702-005-0290-8
2005

Clinical features of LRRK2-associated Parkinson's disease in Central Norway
Annals of Neurology
DOI: 10.1002/ana.20456
2005

High-resolution whole-genome association study of Parkinson disease
American Journal of Human Genetics
DOI: 10.1086/496902
2005

The Effect of tau genotype on clinical features in FTDP-17
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2005.01.003
2005

The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
Neuroscience Letters
DOI: 10.1016/j.neulet.2005.04.103
2005

LRRK2 mutations are not common in Alzheimer's disease
Mechanisms of Ageing and Development
DOI: 10.1016/j.mad.2005.06.010
2005

LRRK2 R1441G in Spanish patients with Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2005.03.033
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
DOI: 10.1086/429256
2005

Lrrk2 pathogenic substitutions in Parkinson's disease
Neurogenetics
DOI: 10.1007/s10048-005-0005-1
2005

UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study
Neuroscience Letters
DOI: 10.1016/j.neulet.2005.02.008
2005

Sporadic SCA8 mutation resembling corticobasal degeneration
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2004.10.008
2005

Tau kinases and Parkinson's disease: Guilt by association?
Annals of Neurology
DOI: 10.1002/ana.20764
2005

PARK11 is not linked with Parkinson's disease in European families
European Journal of Human Genetics
DOI: 10.1038/sj.ejhg.5201317
2005

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
Archives of Neurology
DOI: 10.1001/archneur.62.1.82
2005

LRRK2 mutations and Parkinsonism [4] (multiple letters)
Lancet
DOI: 10.1016/S0140-6736(05)74809-1
2005

Analysis of LRRK2 functional domains in nondominant Parkinson disease
Neurology
DOI: 10.1212/01.wnl.0000180517.70572.37
2005

PET in LRRK2 mutations: Comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation
Brain
DOI: 10.1093/brain/awh607
2005

Pathophysiology, pleotrophy and paradigm shifts: Genetic lessons from Parkinson's disease
Biochemical Society Transactions
DOI: 10.1042/BST0330586
2005

Interaction of a-synuclein and tau genotypes in Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.20387
2005

Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2005.05.004
2005

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism
Neuroscience Letters
DOI: 10.1016/j.neulet.2005.01.051
2005

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease
American Journal of Medical Genetics - Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.30196
2005

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
Archives of Neurology
DOI: 10.1001/archneur.62.6.962
2005

LRRK2 mutations in Parkinson disease
Neurology
DOI: 10.1212/01.WNL.0000169023.51764.b0
2005

Parkinsonism, FXTAS, and FMR1 premutations
Movement Disorders
DOI: 10.1002/mds.20297
2005

A limited role for DJ1 in Parkinson disease susceptibility
Neurology
2004

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
Neuron
DOI: 10.1016/j.neuron.2004.11.005
2004

a-synuclein locus duplication as a cause of familial Parkinson's disease
Lancet
DOI: 10.1016/S0140-6736(04)17103-1
2004

Linkage disequilibrium and association of MAPT H1 in Parkinson disease
American Journal of Human Genetics
DOI: 10.1086/424492
2004

Multiplication of the a-synuclein gene is not a common disease mechanism in Lewy body disease
Journal of Molecular Neuroscience
DOI: 10.1385/JMN:24:3:337
2004

Identification of the Human Ubiquitin Specific Protease 31 (USP31) Gene: Structure, Sequence and Expression Analysis
DNA Sequence - Journal of DNA Sequencing and Mapping
DOI: 10.1080/10855660310001638197
2004

The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval
American Journal of Human Genetics
DOI: 10.1086/380647
2004

Comparison of Kindreds with Parkinsonism and a-Synuclein Genomic Multiplications
Annals of Neurology
DOI: 10.1002/ana.10846
2004

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG)
Movement Disorders
DOI: 10.1002/mds.20000
2004

Genome-wide scan linkage analysis for Parkinson's disease: The European genetic study of Parkinson's disease
Journal of Medical Genetics
DOI: 10.1136/jmg.2004.022632
2004

Genetic association studies in Alzheimer's disease research: Challenges and opportunities
Statistics in Medicine
DOI: 10.1002/sim.1706
2004

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Movement Disorders
DOI: 10.1002/mds.20074
2004

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism
Movement Disorders
DOI: 10.1002/mds.20082
2004

a-Synuclein promoter confers susceptibility to Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.20268
2004

Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
Movement Disorders
DOI: 10.1002/mds.10703
2004

N-myc regulates parkin expression
Journal of Biological Chemistry
DOI: 10.1074/jbc.M400126200
2004

Genome-wide analysis of the parkinsonism-dementia complex of Guam
Archives of Neurology
DOI: 10.1001/archneur.61.12.1889
2004

Clinical Findings in a Large Family with a Parkin Ex3¿40 Mutation
Archives of Neurology
DOI: 10.1001/archneur.61.5.701
2004

a-Synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2004.05.100
2004

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Neurology
2004

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function.
Journal of medical genetics
2004

Parkin genetics: One model for Parkinson's disease
Human Molecular Genetics
2004

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Neurology
2003

Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci
Parkinsonism and Related Disorders
DOI: 10.1016/S1353-8020(02)00036-6
2003

Parkin is not regulated by the unfolded protein response in human neuroblastoma cells
Neuroscience Letters
DOI: 10.1016/S0304-3940(03)00188-5
2003

Identification of a novel gene linked to parkin via a bi-directional promoter
Journal of Molecular Biology
DOI: 10.1016/S0022-2836(02)01376-1
2003

Parkin variants in North American Parkinson's disease: Cases and controls
Movement Disorders
DOI: 10.1002/mds.10601
2003

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddg134
2003

Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation
Movement Disorders
DOI: 10.1002/mds.10432
2003

Complex interactions in Parkinson's disease: A two-phases approach
Movement Disorders
DOI: 10.1002/mds.10431
2003

Case-control study of the a-synuclein interacting protein gene and Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.10547
2003

RING finger 1 mutations in Parkin produce altered localization of the protein
Human Molecular Genetics
DOI: 10.1093/hmg/ddg328
2003

a-Synuclein Locus Triplication Causes Parkinson's Disease
Science
DOI: 10.1126/science.1090278
2003

SCA2 may present as levodopa-responsive parkinsonism
Movement Disorders
DOI: 10.1002/mds.10375
2003

Hereditary tauopathies and parkinsonism.
Advances in neurology
2003

Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?
Movement Disorders
2003

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
Neurology
2003

Identification of a novel gene linked to Parkin via a bidirectional promoter
Annals of the New York Academy of Sciences
2003

Parkin-proven disease: Common founders but divergent phenotypes
Neurology
2003

Co-ordinate transcriptional regulation of dopamine synthesis genes by a-synuclein in human neuroblastoma cell lines
Journal of Neurochemistry
2003

Functional association of the parkin gene promoter with idiopathic Parkinson's disease
Human Molecular Genetics
2002

Complex relationship between Parkin mutations and Parkinson disease
American Journal of Medical Genetics - Neuropsychiatric Genetics
DOI: 10.1002/ajmg.10525
2002

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
Movement Disorders
DOI: 10.1002/mds.10184
2002

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats
Genetic Testing
DOI: 10.1089/109065702761403397
2002

A family with a tau P301L mutation presenting with parkinsonism
Parkinsonism and Related Disorders
DOI: 10.1016/S1353-8020(02)00003-2
2002

Tau neurotoxicity without the lesions: A fly challenges a tangled web
Trends in Neurosciences
DOI: 10.1016/S0166-2236(02)02170-7
2002

Parkin protects against the toxicity associated with mutant a-Synuclein: Proteasome dysfunction selectively affects catecholaminergic neurons
Neuron
DOI: 10.1016/S0896-6273(02)01125-X
2002

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
Movement Disorders
DOI: 10.1002/mds.10241
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
DOI: 10.1002/ajmg.b.10918
2002

Parkinson's genetics: Molecular insights for the new millennium
NeuroToxicology
DOI: 10.1016/S0161-813X(02)00038-4
2002

Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.10268
2002

Parkinson's genetics: An embarrassment of riches
Annals of Neurology
DOI: 10.1002/ana.10091
2002

The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3
Gene
DOI: 10.1016/S0378-1119(02)00402-X
2002

Case-control study of estrogen receptor gene polymorphism in Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.1253
2002

Two large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic study
Brain
2002

The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population
Neuroscience Letters
2002

A multi-incident, old-order Amish family with PD
Neurology
2002

Identifying genetic factors in Parkinson disease [6] (multiple letters)
Journal of the American Medical Association
2002

SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings
Neurology
2002

Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family
Archives of Neurology
2001

Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells
Molecular Brain Research
DOI: 10.1016/S0169-328X(01)00292-3
2001

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

Lewy bodies and parkinsonism in families with parkin mutations
Annals of Neurology
DOI: 10.1002/ana.1132
2001

Genetic analysis of synphilin-1 in familial Parkinson's disease
Neurobiology of Disease
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
DOI: 10.1038/sj.ejhg.5200698
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
DOI: 10.1086/318791
2001

Lack of nigral pathology in transgenic mice expressing human a-synuclein driven by the tyrosine hydroxylase promoter
Neurobiology of Disease
DOI: 10.1006/nbdi.2001.0392
2001

Case-control study of the extended tau gene haplotype in Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.1228
2001

Identification and characterization of the human parkin gene promoter
Journal of Neurochemistry
DOI: 10.1046/j.1471-4159.2001.00512.x
2001

a-synuclein gene haplotypes are associated with Parkinson's disease
Human Molecular Genetics
2001

Pathology of PD in monozygotic twins with a 20-year discordance interval
Neurology
2001

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
Neurology
2000

Linkage exclusion in French families with probable Parkinson's disease
Movement Disorders
DOI: 10.1002/1531-8257(200011)15:6<1075::AID-MDS1004>3.0.CO;2-2
2000

Sensitization of neuronal cells to oxidative stress with mutated human a-synuclein
Journal of Neurochemistry
DOI: 10.1046/j.1471-4159.2000.0752546.x
2000

Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
Human Genetics
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
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
2000

The genetic causes of the tau and synucleinopathies
NeuroScience News
2000

The A53T a-synuclein mutation increases iron-dependent aggregation and toxicity
Journal of Neuroscience
2000

A kindred with Parkinson's disease not showing genetic linkage to established loci
Neurology
2000

Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
Neurology
1999

No pathogenic mutations in the persyn gene in Parkinson's disease
Neuroscience Letters
DOI: 10.1016/S0304-3940(98)00901-X
1999

No pathogenic mutations in the ß-synuclein gene in Parkinson's disease
Neuroscience Letters
DOI: 10.1016/S0304-3940(99)00420-6
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
DOI: 10.1016/S0304-3940(99)00465-6
1999

The genetics of disorders with synuclein pathology and parkinsonism
Human Molecular Genetics
DOI: 10.1093/hmg/8.10.1901
1999

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
Human Molecular Genetics
DOI: 10.1093/hmg/8.1.81
1999

Widespread alterations of a-synuclein in multiple system atrophy
American Journal of Pathology
1999

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease
NeuroReport
1999

a-Synuclein shares physical and functional homology with 14-3-3 proteins
Journal of Neuroscience
1999

Low frequency of a-synuclein mutations in familial Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.410430320
1998

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
Nature Medicine
DOI: 10.1038/nm0498-452
1998

Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with lewy body parkinsonism
American Journal of Medical Genetics - Neuropsychiatric Genetics
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
DOI: 10.1002/ana.410430316
1998

Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome
NeuroReport
1997

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22
Annals of Neurology
DOI: 10.1002/ana.410420516
1997

Erratum: Genetics of Parkinson's disease (Science (November 14, 1997) (1213))
Science
1997

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)
Annals of Human Genetics
DOI: 10.1111/j.1469-1809.1995.tb00746.x
1995

The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21
Annals of Human Genetics
DOI: 10.1111/j.1469-1809.1994.tb00723.x
1994

Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects
Human Genetics
DOI: 10.1007/BF00201672
1994

Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect
American Journal of Human Genetics
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
DOI: 10.1007/BF00217452
1993