- Overview
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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
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Doubts about TMEM230 as a gene for parkinsonism
Nature Genetics
Matt J. Farrer
DOI: 10.1038/s41588-019-0354-6
03/2019Altered 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
12/2018Evaluation 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
2017Homozygous alpha-synuclein p.A53V in familial Parkinson's disease
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2017.05.022
2017Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
Brain : a journal of neurology
DOI: 10.1093/brain/aww261
2017SCA2 family presenting as typical Parkinson's disease: 34 year follow up
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2017.04.003
2017Gender differences in Parkinson's disease depression
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.12.026
2017Serotonin 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
2017Loss-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
2017Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
Brain
DOI: 10.1093/brain/awx077
2017DNM3 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
2016Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.26524
2016Leucine-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
2016Lovastatin 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
2016A 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
2016Leucine-rich repeat kinase 2 (LRRK2) regulates a-synuclein clearance in microglia
BMC Neuroscience
DOI: 10.1186/s12868-016-0315-2
2016Conjugal 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
2016Conjugal parkinsonism is coincidental
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.10.004
2016a-synuclein genetic variability: A biomarker for dementia in Parkinson disease
Annals of Neurology
DOI: 10.1002/ana.24664
2016DCTN1 p.K56R in progressive supranuclear palsy
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2016.04.025
2016Novel LRRK2 mutations in Parkinsonism
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2015.07.011
2015Motor 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
2015LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory
Human Molecular Genetics
DOI: 10.1093/hmg/ddu543
2015DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
European Journal of Neurology
DOI: 10.1111/ene.12770
2015Defining neurodegeneration on Guam by targeted genomic sequencing
Annals of Neurology
DOI: 10.1002/ana.24346
2015Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson's disease
The Lancet Neurology
DOI: 10.1016/S1474-4422(15)00186-6
2015Familial aggregation of Parkinson's disease in the Faroe Islands
Movement Disorders
DOI: 10.1002/mds.26132
2015Chronic 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
2015Head injury, a-synuclein genetic variability and Parkinson's disease
European Journal of Neurology
DOI: 10.1111/ene.12585
2015Parkinsonism in GTP cyclohydrolase 1 mutation carriers
Brain
DOI: 10.1093/brain/awu341
2015Genetic variability of the retromer cargo recognition complex in parkinsonism
Movement Disorders
DOI: 10.1002/mds.26104
2015Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Neurology
DOI: 10.1212/WNL.0000000000002016
2015Retromer-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
2015DNAJC13 genetic variants in parkinsonism
Movement Disorders
DOI: 10.1002/mds.26064
2015Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice
Neurobiology of Disease
DOI: 10.1016/j.nbd.2015.02.031
2015Parkinson's disease, genetic variability and the Faroe Islands
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2014.10.027
2015LRRK2 exonic variants and risk of multiple system atrophy
Neurology
2014The 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
2014DNAJC13 mutations in Parkinson disease
Human molecular genetics
DOI: 10.1093/hmg/ddt570
2014Behavioral 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
2014EIF4G1 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
2014Synaptic 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
2014A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy
Movement Disorders
DOI: 10.1002/mds.25833
2014A 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
2014Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism
Movement Disorders
DOI: 10.1002/mds.26019
2014Identification of FUS p.R377W in essential tremor
European Journal of Neurology
DOI: 10.1111/ene.12231
2014Michael J. Fox Foundation LRRK2 Consortium: Geographical differences in returning genetic research data to study participants
Genetics in Medicine
DOI: 10.1038/gim.2014.55
2014Genetics and genomics of Parkinson's disease
Genome Medicine
DOI: 10.1186/gm566
2014Mutant COQ2 in multiple-system atrophy [3]
New England Journal of Medicine
DOI: 10.1056/NEJMc1311763
2014The 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
2014Does 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
2014In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers
Movement Disorders
DOI: 10.1002/mds.25893
2014Disease penetrance of late-onset parkinsonism: A meta-analysis
JAMA Neurology
DOI: 10.1001/jamaneurol.2014.1909
2014LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance
Neurology
DOI: 10.1212/WNL.0000000000000675
2014Advances in the genetics of Parkinson disease
Nature Reviews Neurology
DOI: 10.1038/nrneurol.2013.132
2013STX6 rs1411478 is not associated with increased risk of Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2013.01.019
2013Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.25421
2013LRRK2 phosphorylates novel tau epitopes and promotes tauopathy
Acta Neuropathologica
DOI: 10.1007/s00401-013-1188-4
2013The genetics of Parkinson's disease: Progress and therapeutic implications
Movement Disorders
DOI: 10.1002/mds.25249
2013Insights 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
2013Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia
Acta Neuropathologica
DOI: 10.1007/s00401-012-1059-4
2013Measurements 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
2013Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium
Movement Disorders
DOI: 10.1002/mds.25600
2013In-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
2013Measuring dopaminergic function in the 6-OHDA-lesioned rat: A comparison of PET and microdialysis
EJNMMI Research
DOI: 10.1186/2191-219X-3-69
2013Patient-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
2013A 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
2012Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database
PLoS Genetics
DOI: 10.1371/journal.pgen.1002548
2012LRRK2 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
2012Cognitive dysfunction in Tunisian LRRK2 associated Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.10.009
2012First 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
2012Large-scale replication and heterogeneity in Parkinson disease genetic loci
Neurology
DOI: 10.1212/WNL.0b013e318264e353
2012Polymorphic 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
2012PARK2 variability in Polish Parkinson's disease patients - interaction with mitochondrial haplogroups
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2012.01.021
2012An 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
2012VPS35 mutations in parkinson disease
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.06.001
2011Common variants in PARK loci and related genes and Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.23376
2011Glucocerebrosidase mutations in diffuse Lewy body disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.09.009
2011A 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
2011Erratum: 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
2011Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Nature Genetics
DOI: 10.1038/ng.859
2011Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2011.05.024
2011Parkinson-related genetics in patients treated with deep brain stimulation
Acta Neurologica Scandinavica
DOI: 10.1111/j.1600-0404.2010.01387.x
2011MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy
Neurology
DOI: 10.1212/WNL.0b013e31820c30c1
2011Death-associated protein kinase 1 variation and Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2010.03255.x
2011Call for participation in the neurogenetics consortium within the Human Variome Project
Neurogenetics
DOI: 10.1007/s10048-011-0287-4
2011Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.05.003
2011Translation initiator EIF4G1 mutations in familial parkinson disease
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.08.009
2011Subclinical signs in LRRK2 mutation carriers
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2011.04.014
2011Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death
Human Mutation
DOI: 10.1002/humu.21582
2011Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice
Neurobiology of Disease
DOI: 10.1016/j.nbd.2010.12.008
2011Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
Annals of Neurology
DOI: 10.1002/ana.22321
2011Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddr077
2011Association 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
2011Genetic variants of a-synuclein are not associated with essential tremor
Movement Disorders
DOI: 10.1002/mds.23909
2011SNCA, MAPT, and GSK3B in Parkinson disease: A gene-gene interaction study
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2010.03297.x
2011Genome-Wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
PLoS Genetics
DOI: 10.1371/journal.pgen.1002171
2011A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Neurology
DOI: 10.1212/WNL.0b013e318219fb42
2011Genealogical studies in LRRK2-associated Parkinson's disease in central Norway
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.05.005
2010Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.23265
2010a-synuclein gene may interact with environmental factors in increasing risk of Parkinson's disease
Neuroepidemiology
DOI: 10.1159/000315157
2010LINGO1 rs9652490 is associated with essential tremor and Parkinson disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2009.08.006
2010LRRK2 and Parkinson disease
Archives of Neurology
DOI: 10.1001/archneurol.2010.79
2010Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease
Mechanisms of Ageing and Development
DOI: 10.1016/j.mad.2010.01.009
2010Histamine 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
2010Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.09.007
2010Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2010.09.059
2010Reply to: SNCA variants are associated with increased risk of multiple system atrophy
Annals of Neurology
DOI: 10.1002/ana.21786
2010Dopamine turnover increases in asymptomatic LRRK2 mutations carriers
Movement Disorders
DOI: 10.1002/mds.23356
2010Parkinson disease: Parkinson disease-moving beyond association
Nature Reviews Neurology
DOI: 10.1038/nrneurol.2010.69
2010An independent replication of park16 in asian samples
Neurology
DOI: 10.1212/WNL.0b013e318202031f
2010A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease
Journal of Neurology, Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2009.185231
2010Lrrk2 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
2010Mutation 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
2010LRRK2 variation and Parkinson's disease in African Americans
Movement Disorders
DOI: 10.1002/mds.23163
2010LRRK2 and Parkinson's Disease
Blue Books of Neurology
DOI: 10.1016/B978-1-4160-6641-5.00007-6
2010Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa
Movement Disorders
DOI: 10.1002/mds.23283
2010Glucocerebrosidase mutations are not a common risk factor for parkinson disease in North Africa
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.11.066
2010Association of pyridoxal kinase and parkinson disease
Annals of Neurology
DOI: 10.1002/ana.21962
2010Autonomic failures in Perry syndrome with DCTN1 mutation
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.07.001
2010LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease
Neurogenetics
DOI: 10.1007/s10048-010-0241-x
2010Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice
Neurobiology of Disease
DOI: 10.1016/j.nbd.2010.07.010
2010Elucidating the genetics and pathology of Perry syndrome
Journal of the Neurological Sciences
DOI: 10.1016/j.jns.2009.08.044
2010Missing pieces in the Parkinson's disease puzzle
Nature Medicine
DOI: 10.1038/nm.2165
2010Calbindin-1 association and Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2009.02769.x
2010A comparative study of Lrrk2 function in primary neuronal cultures
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2010.08.018
2010a-synuclein suppression by targeted small interfering rna in the primate substantia nigra
PLoS ONE
DOI: 10.1371/journal.pone.0012122
2010Association of the MAPT locus with Parkinson's disease
European Journal of Neurology
DOI: 10.1111/j.1468-1331.2009.02847.x
2010Association of a-, ß-, and ¿-synuclein with diffuse lewy body disease
Archives of Neurology
DOI: 10.1001/archneurol.2010.177
2010DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.05.084
2009GCH1 in early-onset Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.22729
2009Clinical 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
2009Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy
Movement Disorders
DOI: 10.1002/mds.22614
2009Evaluation of gastric emptying in familial and sporadic Parkinson disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2009.04.003
2009Characterization of DCTN1 genetic variability in neurodegeneration
Neurology
DOI: 10.1212/WNL.0b013e3181a92c4c
2009GRN 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
2009Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism
Movement Disorders
DOI: 10.1002/mds.22093
2009Dopamine transporter genetic variants and pesticides in Parkinson's disease
Environmental Health Perspectives
DOI: 10.1289/ehp.0800277
2009DCTN1 mutations in Perry syndrome
Nature Genetics
DOI: 10.1038/ng.293
2009ATP13A2 variability in Parkinson disease
Human Mutation
DOI: 10.1002/humu.20877
2009Phactr2 and Parkinson's disease
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.02.009
2009Genetic factors influencing age at onset in LRRK2-linked Parkinson disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.10.008
2009Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.09.001
2009Reported mutations in GIGYF2 are not a common cause of Parkinson's disease
Movement Disorders
DOI: 10.1002/mds.22451
2009A 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
2009FGF20 and Parkinson's disease: No evidence of association or pathogenicity via a-synuclein expression
Movement Disorders
DOI: 10.1002/mds.22442
2009Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.08.002
2009Glucosidase-beta variations and Lewy body disorders
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.08.004
2009Analysis 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
2009Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
New England Journal of Medicine
DOI: 10.1056/NEJMoa0901281
2009Expanding the clinical phenotype of SNCA duplication carriers
Movement Disorders
DOI: 10.1002/mds.22682
2009GCH1 expression in human cerebellum from healthy individuals is not gender dependant
Neuroscience Letters
DOI: 10.1016/j.neulet.2009.06.082
2009Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population
Movement Disorders
DOI: 10.1002/mds.22795
2009Meis1 p.r272h in familial restless legs syndrome
Neurology
DOI: 10.1212/WNL.0b013e3181ae7c79
2009Pallidonigral TDP-43 pathology in Perry syndrome
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.07.005
2009Fine-mapping and candidate gene investigation within the PARK10 locus
European Journal of Human Genetics
DOI: 10.1038/ejhg.2008.187
2009Susceptibility genes for restless legs syndrome are not associated with Parkinson disease
Neurology
DOI: 10.1212/01.wnl.0000317101.67684.e3
2008Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2007.11.013
2008LRRK2 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
2008a-Synuclein, pesticides, and Parkinson disease: A case-control study
Neurology
DOI: 10.1212/01.wnl.0000304049.31377.f2
2008Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
Annals of Neurology
DOI: 10.1002/ana.21405
2008The ancestry of LRRK2 Gly2019Ser parkinsonism - Authors' reply
The Lancet Neurology
DOI: 10.1016/S1474-4422(08)70179-0
2008The Genetics and molecular biology of a-synuclein
Handbook of Clinical Neurology
DOI: 10.1016/S0072-9752(07)01230-4
2008Genetics of Parkinson's Disease
Parkinson's Disease
DOI: 10.1016/B978-0-12-374028-1.00002-6
2008In vivo silencing of alpha-synuclein using naked siRNA
Molecular Neurodegeneration
DOI: 10.1186/1750-1326-3-19
2008Progression of dopaminergic dysfunction in a LRRK2 kindred: A multitracer PET study
Neurology
DOI: 10.1212/01.wnl.0000335973.66333.58
2008Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel
Journal of Neural Transmission
DOI: 10.1007/s00702-008-0074-z
2008A genetic risk factor for periodic limb movements in sleep [7]
New England Journal of Medicine
DOI: 10.1056/NEJMc072518
2008Genetic variation of Omi/HtrA2 and Parkinson's disease
Parkinsonism and Related Disorders
DOI: 10.1016/j.parkreldis.2008.08.003
2008Genomic investigation of a-synuclein multiplication and parkinsonism
Annals of Neurology
DOI: 10.1002/ana.21380
2008SLCO1B1 variants and statin-induced myopathy - A genomewide study
New England Journal of Medicine
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2008Genetic association study of synphilin-1 in idiopathic Parkinson's disease
BMC Medical Genetics
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2008PINK1 mutations and parkinsonism
Neurology
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2008Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5
Neurology
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2008Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population
Acta Neurologica Scandinavica
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2008Dopamine ß-hydroxylase -1021C>T association and Parkinson's disease
Parkinsonism and Related Disorders
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2008LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study
The Lancet Neurology
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2008Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
Neurology
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2008Familial genes in sporadic disease: Common variants of a-synuclein gene associate with Parkinson's disease
Mechanisms of Ageing and Development
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2007Aprataxin (APTX) gene mutations resembling multiple system atrophy
Parkinsonism and Related Disorders
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2007Phenotypic associations of tau and ApoE in Parkinson's disease
Neuroscience Letters
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2007Identification 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
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2007Identification of potential protein interactors of Lrrk2
Parkinsonism and Related Disorders
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2007Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease
Parkinsonism and Related Disorders
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2007a-synuclein and Parkinson disease susceptibility
Neurology
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2007MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease
Journal of Neuroscience Research
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2007Lrrk2 mutations in South America: A study of Chilean Parkinson's disease
Neuroscience Letters
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2007A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease
Neuroscience
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2007Lrrk2 in the limelight!
Neurology
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2007Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain
Parkinsonism and Related Disorders
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2007Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
Neurology
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2007Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway
Neuroscience Letters
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2007Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation
Journal of Neural Transmission
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2007PINK1 mutation heterozygosity and the risk of Parkinson's disease
Journal of Neurology, Neurosurgery and Psychiatry
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2007Beta-synuclein gene variants and Parkinson's disease: A preliminary case-control study
Neuroscience Letters
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2007Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions
Acta Neuropathologica
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2007Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Movement Disorders
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2007ELAVL4, PARK10, and the celts
Movement Disorders
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2007Leucine-rich repeat kinase 1: A paralog of LRRK2 and a candidate gene for Parkinson's disease
Neurogenetics
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2007LRRK2 and Parkinson's disease in Norway
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Movement Disorders
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Movement Disorders
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2007Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of parkinsonian diseases
Neurobiology of Disease
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2007Pathogenic Lrrk2 substitutions and amyotrophic lateral sclerosis
Journal of Neural Transmission
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2007Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
Parkinsonism and Related Disorders
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2007Quantitative PCR-based screening of a-synuclein multiplication in multiple system atrophy
Parkinsonism and Related Disorders
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2007Clinical and pathologic features of families with LRRK2-associated Parkinson's disease
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Experimental Brain Research
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Trends in Neurosciences
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Trends in Molecular Medicine
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Annals of Neurology
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2006Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
Archives of Neurology
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Annals of Neurology
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Parkinsonism and Related Disorders
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Neurology
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Annals of Neurology
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2006Atypical Parkinsonism and SCA8
Parkinsonism and Related Disorders
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2006Phenotypic commonalities in familial and sporadic Parkinson disease
Archives of Neurology
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Neuroscience
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Neuroscience Letters
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2006LRRK2 mutations are a common cause of Parkinson's disease in Spain
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2006Lrrk2 R1441 substitution and progressive supranuclear palsy
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2005Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism
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2005Clinical features of LRRK2-associated Parkinson's disease in Central Norway
Annals of Neurology
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2005High-resolution whole-genome association study of Parkinson disease
American Journal of Human Genetics
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Parkinsonism and Related Disorders
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2005The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
Neuroscience Letters
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2005LRRK2 mutations are not common in Alzheimer's disease
Mechanisms of Ageing and Development
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2005LRRK2 R1441G in Spanish patients with Parkinson's disease
Neuroscience Letters
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2005Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: Evidence of a common founder across European populations
American Journal of Human Genetics
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2005Lrrk2 pathogenic substitutions in Parkinson's disease
Neurogenetics
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2005UCHL1 is associated with Parkinson's disease: A case-unaffected sibling and case-unrelated control study
Neuroscience Letters
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2005Sporadic SCA8 mutation resembling corticobasal degeneration
Parkinsonism and Related Disorders
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2005Tau kinases and Parkinson's disease: Guilt by association?
Annals of Neurology
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2005PARK11 is not linked with Parkinson's disease in European families
European Journal of Human Genetics
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2005Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
Archives of Neurology
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2005LRRK2 mutations and Parkinsonism [4] (multiple letters)
Lancet
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Neurology
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2005PET in LRRK2 mutations: Comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation
Brain
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2005Pathophysiology, pleotrophy and paradigm shifts: Genetic lessons from Parkinson's disease
Biochemical Society Transactions
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2005Interaction of a-synuclein and tau genotypes in Parkinson's disease
Annals of Neurology
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2005Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD
Parkinsonism and Related Disorders
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2005Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism
Neuroscience Letters
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2005Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease
American Journal of Medical Genetics - Neuropsychiatric Genetics
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2005FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
Archives of Neurology
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2005LRRK2 mutations in Parkinson disease
Neurology
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2005Parkinsonism, FXTAS, and FMR1 premutations
Movement Disorders
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2005A limited role for DJ1 in Parkinson disease susceptibility
Neurology
2004Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
Neuron
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2004a-synuclein locus duplication as a cause of familial Parkinson's disease
Lancet
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2004Linkage disequilibrium and association of MAPT H1 in Parkinson disease
American Journal of Human Genetics
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2004Multiplication of the a-synuclein gene is not a common disease mechanism in Lewy body disease
Journal of Molecular Neuroscience
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2004Identification of the Human Ubiquitin Specific Protease 31 (USP31) Gene: Structure, Sequence and Expression Analysis
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2004The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval
American Journal of Human Genetics
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2004Comparison of Kindreds with Parkinsonism and a-Synuclein Genomic Multiplications
Annals of Neurology
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2004It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG)
Movement Disorders
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2004Genome-wide scan linkage analysis for Parkinson's disease: The European genetic study of Parkinson's disease
Journal of Medical Genetics
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2004Genetic association studies in Alzheimer's disease research: Challenges and opportunities
Statistics in Medicine
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2004Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
Movement Disorders
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2004Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism
Movement Disorders
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2004a-Synuclein promoter confers susceptibility to Parkinson's disease
Annals of Neurology
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2004Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations
Movement Disorders
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2004N-myc regulates parkin expression
Journal of Biological Chemistry
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2004Genome-wide analysis of the parkinsonism-dementia complex of Guam
Archives of Neurology
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2004Clinical Findings in a Large Family with a Parkin Ex3¿40 Mutation
Archives of Neurology
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2004a-Synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease
Neuroscience Letters
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2004Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Neurology
2004DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function.
Journal of medical genetics
2004Parkin genetics: One model for Parkinson's disease
Human Molecular Genetics
2004Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Neurology
2003Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci
Parkinsonism and Related Disorders
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2003Parkin is not regulated by the unfolded protein response in human neuroblastoma cells
Neuroscience Letters
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2003Identification of a novel gene linked to parkin via a bi-directional promoter
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2003Parkin variants in North American Parkinson's disease: Cases and controls
Movement Disorders
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2003Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
Human Molecular Genetics
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2003Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation
Movement Disorders
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Movement Disorders
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2003Case-control study of the a-synuclein interacting protein gene and Parkinson's disease
Movement Disorders
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2003RING finger 1 mutations in Parkin produce altered localization of the protein
Human Molecular Genetics
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2003a-Synuclein Locus Triplication Causes Parkinson's Disease
Science
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Movement Disorders
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Movement Disorders
2003New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
Neurology
2003Identification of a novel gene linked to Parkin via a bidirectional promoter
Annals of the New York Academy of Sciences
2003Parkin-proven disease: Common founders but divergent phenotypes
Neurology
2003Co-ordinate transcriptional regulation of dopamine synthesis genes by a-synuclein in human neuroblastoma cell lines
Journal of Neurochemistry
2003Functional association of the parkin gene promoter with idiopathic Parkinson's disease
Human Molecular Genetics
2002Complex relationship between Parkin mutations and Parkinson disease
American Journal of Medical Genetics - Neuropsychiatric Genetics
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2002Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
Movement Disorders
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Trends in Neurosciences
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2002Parkin protects against the toxicity associated with mutant a-Synuclein: Proteasome dysfunction selectively affects catecholaminergic neurons
Neuron
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2002Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
Movement Disorders
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2002Parkinson's genetics: Molecular insights for the new millennium
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2002Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease
Movement Disorders
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2002Parkinson's genetics: An embarrassment of riches
Annals of Neurology
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2002The human sideroflexin 5 (SFXN5) gene: Sequence, expression analysis and exclusion as a candidate for PARK3
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2002Case-control study of estrogen receptor gene polymorphism in Parkinson's disease
Movement Disorders
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2002Two large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic study
Brain
2002The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population
Neuroscience Letters
2002A multi-incident, old-order Amish family with PD
Neurology
2002Identifying genetic factors in Parkinson disease [6] (multiple letters)
Journal of the American Medical Association
2002SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings
Neurology
2002Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family
Archives of Neurology
2001Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells
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2001Genetic risk factors: Session V summary and research needs
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Annals of Neurology
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2001Genetic analysis of synphilin-1 in familial Parkinson's disease
Neurobiology of Disease
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2001Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
European Journal of Human Genetics
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2001Origin 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
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2001Lack of nigral pathology in transgenic mice expressing human a-synuclein driven by the tyrosine hydroxylase promoter
Neurobiology of Disease
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2001Case-control study of the extended tau gene haplotype in Parkinson's disease
Annals of Neurology
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2001Identification and characterization of the human parkin gene promoter
Journal of Neurochemistry
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2001a-synuclein gene haplotypes are associated with Parkinson's disease
Human Molecular Genetics
2001Pathology of PD in monozygotic twins with a 20-year discordance interval
Neurology
2001Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
Neurology
2000Linkage exclusion in French families with probable Parkinson's disease
Movement Disorders
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2000Sensitization of neuronal cells to oxidative stress with mutated human a-synuclein
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2000Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
Human Genetics
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2000Case-control study of debrisoquine 4-hydroxylase, N-acetyltransferase 2, and apolipoprotein E gene polymorphisms in Parkinson's disease
Movement Disorders
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2000Distinctive neuropathology revealed by a-synuclein antibodies in hereditary parkonsonism and dementia linked to chromosome 4p
Acta Neuropathologica
2000The genetic causes of the tau and synucleinopathies
NeuroScience News
2000The A53T a-synuclein mutation increases iron-dependent aggregation and toxicity
Journal of Neuroscience
2000A kindred with Parkinson's disease not showing genetic linkage to established loci
Neurology
2000Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
Neurology
1999No pathogenic mutations in the persyn gene in Parkinson's disease
Neuroscience Letters
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1999No pathogenic mutations in the ß-synuclein gene in Parkinson's disease
Neuroscience Letters
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Neuroscience Letters
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Human Molecular Genetics
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Human Molecular Genetics
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American Journal of Pathology
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NeuroReport
1999a-Synuclein shares physical and functional homology with 14-3-3 proteins
Journal of Neuroscience
1999Low frequency of a-synuclein mutations in familial Parkinson's disease
Annals of Neurology
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Nature Medicine
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American Journal of Medical Genetics - Neuropsychiatric Genetics
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Annals of Neurology
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1998Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome
NeuroReport
1997Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22
Annals of Neurology
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Science
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Annals of Human Genetics
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1993
Dr. Edmond S. Chan receives 2019 Robyn Allen Leadership Award
Dr. Edmond S. Chan, UBC Clinical Associate Professor and Head of the Division of Allergy & Immunology in the Department of Pediatrics at UBC, is the winner of the 2019 Robyn Allen Leadership Award.
