Matthew Farrer

Matthew Farrer

Program Director & Professor

Department: MD-NEUROLOGY-MOVEMENT DISORDER
Business Phone: (352) 273-5611
Business Email: m.farrer@ufl.edu

About Matthew Farrer

Dr. Matt Farrer, is critically acclaimed for his work in the genetics and neuroscience of Parkinson’s disease. His inspiration to apply genetic analysis to complex neurologic disorders came from early work as a care assistant of patients and families with neurologic and psychiatric disorders. Dr. Farrer earned first degree in Biochemistry with a Doctoral degree in Molecular and Statistical Genetics from St. Mary’s Hospital Medical School, UK. He completed a Fellowship in Medical Genetics at the Kennedy-Galton Centre, UK, and in Neurogenetics at Mayo Clinic. Dr. Farrer became an Assistant Professor of Molecular Neuroscience in 2000, where he opened his first laboratory to predict and prevent Parkinson’s disease. Dr. Farrer became a tenured Professor in 2006, a Mayo Consultant and subsequently a Distinguished Mayo Investigator. In 2010, Dr. Farrer was awarded a Canada Excellence Research Chair to build the Centre for Applied Neurogenetics and Neuroscience at the University of British Columbia, Vancouver, Canada. He came a Professor of Medical Genetics. The Province of British Columbia subsequently awarded him the Don Rix Chair in Precision Medicine and his team had many notable accomplishments, including several new genes and mouse models for Parkinson’s disease. The team also implemented high-throughput sequencing in pediatric seizure disorders and neonatology in clinical service. The former was funded through the Medical Services Plan of British Columbia, and was a first for Canada.

In 2019, Dr. Farrer accepted an endowed chair at the Norman Fixel Institute for Neurological Diseases (thanks to a generous endowment from the Lauren and Lee Fixel Family Foundation). Dr. Matt Farrer also directs the UF Clinical Genomics Program. As such he currently has appointments and affiliations in the UF College of Medicine’s Neurology and Pathology Departments, Clinical and Translational Science Institute, the Evelyn F. and William L. McKnight Brain Institute, the Center for Translational Research in Neurodegenerative Disease, the Center for Neurogenetic in addition to the Norman Fixel Institute for Neurological Diseases.

Accomplishments

9th Donald Calne Lectureship
2012 · Parkinson Society Canada
Pritzker Prize Nomination
2011 · Michael J. Fox Foundation
Health Care Hero
2009 · Jacksonville Business Journal
Distinguished Investigator Award
2008 · May Clinic, Jacksonville, FL
Health Care Hero
2005 · Jacksonville Business Journal

Research Profile

My long term career objective has been to provide molecular targets, develop tools and characterize models to encourage greater pharmaceutical investment in disease-modifying therapeutics aimed at neuroprotection (‘precision medicine’). I have long had an interest in dementia, from my PhD dissertation was on ‘The genetics of age-associated cognitive dysfunction in Down syndrome’, including the role of APOE, to linkage analysis implicating increased alpha-synuclein gene dosage as the cause of Lewy body parkinsonism-dementia, to comparative high-throughput sequencing in families and populations to identify the genetic contribution to neurodegenerative trait components. I have used genetic insights to better understand genotype-phenotype correlations in man and in mouse models, with cre-loxP methods and brain slice biochemistry and physiology. In recent years I built and directed the Centre for Applied Neurogenetics and Translational Neuroscience at the University of British Columbia, and founded Neurocode Labs Inc., the only company in Canada that is clinically-accredited in medical genetics to return results from whole exome sequencing, primarily in the context of pediatric seizure disorders. As part of both endeavors, integrating genetic information, bioinformatics and web-development, my team created NeuroSeq (www.neuroseq.ca), a genome browser to enable sharing and global collaboration between neurologists and academic researchers. This proposal is a community-based effort focused on brain health and neuroprotection that aims to understand what it will take to deliver genetic information to the public. We aim to lower the risk of cognitive decline and dementia, in an underserved and socioeconomically disadvantaged sample from the population of Florida, in a meaningful and ethically-responsible fashion. It is a pilot application to improve population health, methodologically simplistic but nonetheless challenging in that it aims to modify individual behavior to lower the overall risk and incidence of Alzheimer’s disease.

Publications

2020
Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors.
Movement disorders : official journal of the Movement Disorder Society. 35(10):1854-1858 [DOI] 10.1002/mds.28238. [PMID] 32875616.
2020
Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease.
Brain : a journal of neurology. 143(4):1190-1205 [DOI] 10.1093/brain/awaa064. [PMID] 32201884.
2020
Parkinson disease risk variants in East Asian populations.
Nature reviews. Neurology. 16(9):461-462 [DOI] 10.1038/s41582-020-0379-6. [PMID] 32572178.
2020
Neuron-autonomous susceptibility to induced synuclein aggregation is exacerbated by endogenous Lrrk2 mutations and ameliorated by Lrrk2 genetic knock-out.
Brain communications. 2(1) [DOI] 10.1093/braincomms/fcz052. [PMID] 32510053.
2020
An in vitro bioengineered model of the human arterial neurovascular unit to study neurodegenerative diseases.
Molecular neurodegeneration. 15(1) [DOI] 10.1186/s13024-020-00418-z. [PMID] 33213497.
2020
Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?
Neurology. 94(11):481-494 [DOI] 10.1212/WNL.0000000000009107. [PMID] 32102975.
2020
Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Molecular brain. 13(1) [DOI] 10.1186/s13041-020-00593-6. [PMID] 32220239.
2020
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
Brain : a journal of neurology. [DOI] 10.1093/brain/awaa279. [PMID] 33141179.
2019
Whole-Exome Sequencing of an Exceptional Longevity Cohort.
The journals of gerontology. Series A, Biological sciences and medical sciences. 74(9):1386-1390 [DOI] 10.1093/gerona/gly098. [PMID] 29750252.
2019
Using global team science to identify genetic parkinson’s disease worldwide
Annals of Neurology. 86(2):153-157 [DOI] 10.1002/ana.25514. [PMID] 31155756.
2019
Single Inflammatory Trigger Leads to Neuroinflammation in LRRK2 Rodent Model without Degeneration of Dopaminergic Neurons.
Journal of Parkinson's disease. 9(1):121-139 [DOI] 10.3233/JPD-181446. [PMID] 30452424.
2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
European journal of pediatrics. 178(8):1207-1218 [DOI] 10.1007/s00431-019-03399-4. [PMID] 31172278.
2019
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.
Annals of neurology. 86(2):324-326 [DOI] 10.1002/ana.25510. [PMID] 31148195.
2019
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Molecular brain. 12(1) [DOI] 10.1186/s13041-019-0513-9. [PMID] 31707987.
2019
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
Muscle & nerve. 60(3):311-314 [DOI] 10.1002/mus.26622. [PMID] 31241196.
2019
Endosomal trafficking leads the way in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 34(4):443-445 [DOI] 10.1002/mds.27647. [PMID] 30812061.
2019
Doubts about TMEM230 as a gene for parkinsonism.
Nature genetics. 51(3):367-368 [DOI] 10.1038/s41588-019-0354-6. [PMID] 30804554.
2019
DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1.
Neuroscience letters. 706:114-122 [DOI] 10.1016/j.neulet.2019.04.043. [PMID] 31082451.
2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology. 10 [DOI] 10.3389/fneur.2019.00434. [PMID] 31164858.
2018
The emerging role of Rab GTPases in the pathogenesis of Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 33(2):196-207 [DOI] 10.1002/mds.27270. [PMID] 29315801.
2018
Pipeline to gene discovery – Analysing familial Parkinsonism in the Queensland Parkinson’s Project.
Parkinsonism & related disorders. 49:34-41 [DOI] 10.1016/j.parkreldis.2017.12.033. [PMID] 29329938.
2018
Establishing diagnostic criteria for Perry syndrome.
Journal of neurology, neurosurgery, and psychiatry. 89(5):482-487 [DOI] 10.1136/jnnp-2017-316864. [PMID] 29089398.
2018
Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson’s disease.
Parkinsonism & related disorders. 47:39-44 [DOI] 10.1016/j.parkreldis.2017.11.339. [PMID] 29191473.
2018
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
Journal of movement disorders. 11(1):45-48 [DOI] 10.14802/jmd.17066. [PMID] 29316780.
2018
Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice.
NPJ Parkinson's disease. 4 [DOI] 10.1038/s41531-018-0063-3. [PMID] 30155515.
2018
Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease.
Autophagy. 14(8):1404-1418 [DOI] 10.1080/15548627.2018.1461294. [PMID] 29947276.
2018
A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin.
Case reports in neurological medicine. 2018 [DOI] 10.1155/2018/6838965. [PMID] 30050705.
2018
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.
Frontiers in neurology. 9 [DOI] 10.3389/fneur.2018.01021. [PMID] 30619023.
2018
Assessing an Interactive Online Tool to Support Parents’ Genomic Testing Decisions.
Journal of genetic counseling. [DOI] 10.1007/s10897-018-0281-1. [PMID] 30033481.
2017
Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies.
The Lancet. Neurology. 16(5):351-359 [DOI] 10.1016/S1474-4422(17)30056-X. [PMID] 28336296.
2017
SCA2 family presenting as typical Parkinson’s disease: 34 year follow up.
Parkinsonism & related disorders. 40:69-72 [DOI] 10.1016/j.parkreldis.2017.04.003. [PMID] 28462804.
2017
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
Brain : a journal of neurology. 140(6) [DOI] 10.1093/brain/awx077. [PMID] 28379295.
2017
Neurobehavioral characterization of adult-onset Alexander disease: A family study.
Neurology. Clinical practice. 7(5):425-429 [DOI] 10.1212/CPJ.0000000000000356. [PMID] 29620072.
2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
American journal of human genetics. 101(1):65-74 [DOI] 10.1016/j.ajhg.2017.05.016. [PMID] 28669405.
2017
Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior, in LRRK2 G2019S knock-in mice.
eLife. 6 [DOI] 10.7554/eLife.28377. [PMID] 28930069.
2017
Homozygous alpha-synuclein p.A53V in familial Parkinson’s disease.
Neurobiology of aging. 57:248.e7-248.e12 [DOI] 10.1016/j.neurobiolaging.2017.05.022. [PMID] 28666710.
2017
Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.
Movement disorders clinical practice. 4(4):499-508 [DOI] 10.1002/mdc3.12501. [PMID] 30363439.
2017
Gender differences in Parkinson’s disease depression.
Parkinsonism & related disorders. 36:93-97 [DOI] 10.1016/j.parkreldis.2016.12.026. [PMID] 28089265.
2017
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson’s disease: analysis of a large multicenter study.
Neurobiology of aging. 49:217.e1-217.e4 [DOI] 10.1016/j.neurobiolaging.2016.09.022. [PMID] 27814993.
2017
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Annals of neurology. 82(4):640-646 [DOI] 10.1002/ana.25048. [PMID] 28892570.
2017
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
American journal of human genetics. 101(2):300-310 [DOI] 10.1016/j.ajhg.2017.07.004. [PMID] 28777935.
2017
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Pediatric neurology. 75:87-90 [DOI] 10.1016/j.pediatrneurol.2017.06.003. [PMID] 28811059.
2017
Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism.
Brain : a journal of neurology. 140(1):98-117 [DOI] 10.1093/brain/aww261. [PMID] 27807026.
2016
Leucine-rich repeat kinase 2 (LRRK2) regulates α-synuclein clearance in microglia.
BMC neuroscience. 17(1) [PMID] 27903237.
View on: PubMed
2016
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Annals of neurology. 79(6):991-9 [DOI] 10.1002/ana.24664. [PMID] 27091628.
2016
Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3β activity.
Human molecular genetics. 25(10):1965-1978 [PMID] 26931464.
View on: PubMed
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. 292:1-8 [DOI] 10.1016/j.jneuroim.2016.01.005. [PMID] 26943952.
2016
Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 31(3):423-5 [DOI] 10.1002/mds.26524. [PMID] 26860075.
2016
Urinary LRRK2 phosphorylation predicts parkinsonian phenotypes in G2019S LRRK2 carriers
Neurology. 86(11):994-999 [DOI] 10.1212/WNL.0000000000002436. [PMID] 26865512.
2016
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Neurology. Genetics. 2(6) [PMID] 27872899.
View on: PubMed
2016
DCTN1 p.K56R in progressive supranuclear palsy.
Parkinsonism & related disorders. 28:56-61 [DOI] 10.1016/j.parkreldis.2016.04.025. [PMID] 27132499.
2016
Conjugal parkinsonism is coincidental.
Parkinsonism & related disorders. 33:149-150 [DOI] 10.1016/j.parkreldis.2016.10.004. [PMID] 27743700.
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 : official journal of the Movement Disorder Society. 31(3):405-9 [DOI] 10.1002/mds.26450. [PMID] 26685774.
2016
Conjugal parkinsonism – Clinical, pathology and genetic study. No evidence of person-to-person transmission.
Parkinsonism & related disorders. 31:87-90 [DOI] 10.1016/j.parkreldis.2016.07.011. [PMID] 27481034.
2016
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.
The Lancet. Neurology. 15(12):1248-1256 [DOI] 10.1016/S1474-4422(16)30203-4. [PMID] 27692902.
2015
Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson’s disease VPS35 mutation p.D620N.
Human molecular genetics. 24(6):1691-703 [DOI] 10.1093/hmg/ddu582. [PMID] 25416282.
2015
Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice.
Neurobiology of disease. 78:172-95 [DOI] 10.1016/j.nbd.2015.02.031. [PMID] 25836420.
2015
Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock in mice
Neurobiology of Disease.
2015
Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock in mice
Neurobiology of Disease.
2015
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Brain : a journal of neurology. 138(Pt 5) [DOI] 10.1093/brain/awu341. [PMID] 25497597.
2015
Parkinson’s disease, genetic variability and the Faroe Islands.
Parkinsonism & related disorders. 21(1):75-8 [DOI] 10.1016/j.parkreldis.2014.10.027. [PMID] 25466404.
2015
Motor phenotype of LRRK2-associated Parkinson’s disease: a Tunisian longitudinal study.
Movement disorders : official journal of the Movement Disorder Society. 30(2):253-8 [DOI] 10.1002/mds.26097. [PMID] 25487881.
2015
LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory.
Human molecular genetics. 24(5):1336-49 [DOI] 10.1093/hmg/ddu543. [PMID] 25343991.
2015
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Neurology. 85(15):1283-92 [DOI] 10.1212/WNL.0000000000002016. [PMID] 26354989.
2015
Novel LRRK2 mutations in Parkinsonism.
Parkinsonism & related disorders. 21(9):1119-21 [DOI] 10.1016/j.parkreldis.2015.07.011. [PMID] 26213354.
2015
Head injury, α-synuclein genetic variability and Parkinson’s disease.
European journal of neurology. 22(5):874-8 [DOI] 10.1111/ene.12585. [PMID] 25370538.
2015
Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson’s disease.
The Lancet. Neurology. 14(10):1054-64 [DOI] 10.1016/S1474-4422(15)00186-6. [PMID] 26376970.
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 & related disorders. 21(10):1156-63 [DOI] 10.1016/j.parkreldis.2015.07.025. [PMID] 26282470.
2015
Defining neurodegeneration on Guam by targeted genomic sequencing.
Annals of neurology. 77(3):458-68 [DOI] 10.1002/ana.24346. [PMID] 25558820.
2015
DNAJC13 genetic variants in parkinsonism.
Movement disorders : official journal of the Movement Disorder Society. 30(2):273-8 [DOI] 10.1002/mds.26064. [PMID] 25393719.
2015
[11C]PBR28 PET imaging is sensitive to neuroinflammation in the aged rat.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 35(8):1331-8 [DOI] 10.1038/jcbfm.2015.54. [PMID] 25833342.
2015
Familial aggregation of Parkinson’s disease in the Faroe Islands.
Movement disorders : official journal of the Movement Disorder Society. 30(4):538-44 [DOI] 10.1002/mds.26132. [PMID] 25600277.
2015
Genetic variability of the retromer cargo recognition complex in parkinsonism.
Movement disorders : official journal of the Movement Disorder Society. 30(4):580-4 [DOI] 10.1002/mds.26104. [PMID] 25475142.
2015
DNAJC13 p.Asn855Ser mutation screening in Parkinson’s disease and pathologically confirmed Lewy body disease patients.
European journal of neurology. 22(9):1323-5 [DOI] 10.1111/ene.12770. [PMID] 26278106.
2014
The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population.
European journal of neurology. 21(11):e91-2 [DOI] 10.1111/ene.12489. [PMID] 25303626.
2014
In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers.
Movement disorders : official journal of the Movement Disorder Society. 29(9):1197-201 [DOI] 10.1002/mds.25893. [PMID] 24797316.
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. 8 [DOI] 10.3389/fncel.2014.00301. [PMID] 25309331.
2014
Protective effect of LRRK2 p.R1398H on risk of Parkinson’s disease is independent of MAPT and SNCA variants.
Neurobiology of aging. 35(1):266.e5-14 [DOI] 10.1016/j.neurobiolaging.2013.07.013. [PMID] 23962496.
2014
Mutant COQ2 in multiple-system atrophy.
The New England journal of medicine. 371(1) [DOI] 10.1056/NEJMc1311763. [PMID] 24988567.
2014
Mutant COQ2 in multiple-system atrophy
New England Journal of Medicine.
2014
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.
Genetics in medicine : official journal of the American College of Medical Genetics. 16(8):644-5 [DOI] 10.1038/gim.2014.55. [PMID] 25093570.
2014
LRRK2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance.
Neurology. 83(6):568-9 [DOI] 10.1212/WNL.0000000000000675. [PMID] 25008396.
2014
LRRK2 exonic variants and risk of multiple system atrophy.
Neurology. 83(24):2256-61 [DOI] 10.1212/WNL.0000000000001078. [PMID] 25378673.
2014
Identification of FUS p.R377W in essential tremor.
European journal of neurology. 21(2):361-3 [DOI] 10.1111/ene.12231. [PMID] 23834483.
2014
Behavioral deficits and striatal DA signaling in LRRK2 p.G2019S transgenic rats: a multimodal investigation including PET neuroimaging.
Journal of Parkinson's disease. 4(3):483-98 [DOI] 10.3233/JPD-140344. [PMID] 25000966.
2014
Genetics and genomics of Parkinson’s disease
Genome Medicine. 6(6) [DOI] 10.1186/gm566. [PMID] 25061481.
2014
EIF4G1 gene mutations are not a common cause of Parkinson’s disease in the Japanese population.
Parkinsonism & related disorders. 20(6):659-61 [DOI] 10.1016/j.parkreldis.2014.03.004. [PMID] 24704100.
2014
Does α-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson’s disease?
Parkinsonism & related disorders. 20(6):584-9; discussion 584 [DOI] 10.1016/j.parkreldis.2014.02.021. [PMID] 24656894.
2014
DNAJC13 mutations in Parkinson disease.
Human molecular genetics. 23(7):1794-801 [DOI] 10.1093/hmg/ddt570. [PMID] 24218364.
2014
Disease penetrance of late-onset parkinsonism: a meta-analysis.
JAMA neurology. 71(12):1535-9 [DOI] 10.1001/jamaneurol.2014.1909. [PMID] 25330418.
2014
Comparative study of Parkinson’s disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.
Neurobiology of aging. 35(5):1125-31 [DOI] 10.1016/j.neurobiolaging.2013.11.015. [PMID] 24355527.
2014
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society. 29(13):1684-7 [DOI] 10.1002/mds.26019. [PMID] 25186792.
2014
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Movement disorders : official journal of the Movement Disorder Society. 29(9):1201-4 [DOI] 10.1002/mds.25833. [PMID] 24676999.
2014
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
Neurology. 83(21):1906-1913
2013
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer’s disease
Acta Neuropathologica Communications. 1(1)
2013
The genetics of Parkinson’s disease: progress and therapeutic implications.
Movement disorders : official journal of the Movement Disorder Society. 28(1):14-23 [DOI] 10.1002/mds.25249. [PMID] 23389780.
2013
STX6 rs1411478 is not associated with increased risk of Parkinson’s disease.
Parkinsonism & related disorders. 19(5):563-5 [DOI] 10.1016/j.parkreldis.2013.01.019. [PMID] 23415606.
2013
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium.
Movement disorders : official journal of the Movement Disorder Society. 28(12):1740-4 [DOI] 10.1002/mds.25600. [PMID] 23913756.
2013
Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.
Acta neuropathologica. 125(3):425-38 [DOI] 10.1007/s00401-012-1059-4. [PMID] 23124435.
2013
Patient-control association study of the Leucine-Rich repeat kinase 2 (LRRK2) gene in South African Parkinson’s disease patients.
Movement disorders : official journal of the Movement Disorder Society. 28(14):2039-40 [DOI] 10.1002/mds.25637. [PMID] 24014121.
2013
LRRK2 Phosphorylates novel tau epitopes and promotes tauopathy
The Journal of Neuroscience.
2013
LRRK2 phosphorylates novel tau epitopes and promotes tauopathy.
Acta neuropathologica. 126(6):809-27 [DOI] 10.1007/s00401-013-1188-4. [PMID] 24113872.
2013
Measuring dopaminergic function in the 6-OHDA-lesioned rat: a comparison of PET and microdialysis.
EJNMMI research. 3(1) [DOI] 10.1186/2191-219X-3-69. [PMID] 24088510.
2013
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 28(6):811-3 [DOI] 10.1002/mds.25421. [PMID] 23457019.
2013
Advances in the genetics of Parkinson disease.
Nature reviews. Neurology. 9(8):445-54 [DOI] 10.1038/nrneurol.2013.132. [PMID] 23857047.
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 : official journal of the International Society of Cerebral Blood Flow and Metabolism. 33(1):59-66 [DOI] 10.1038/jcbfm.2012.120. [PMID] 22929441.
2012
Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study.
BMC medical genetics. 13 [DOI] 10.1186/1471-2350-13-16. [PMID] 22424094.
2012
PARK2 variability in Polish Parkinson’s disease patients–interaction with mitochondrial haplogroups.
Parkinsonism & related disorders. 18(5):520-4 [DOI] 10.1016/j.parkreldis.2012.01.021. [PMID] 22361577.
2012
LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors.
Molecular neurodegeneration. 7 [DOI] 10.1186/1750-1326-7-25. [PMID] 22647713.
2012
Large-scale replication and heterogeneity in Parkinson disease genetic loci.
Neurology. 79(7):659-67 [DOI] 10.1212/WNL.0b013e318264e353. [PMID] 22786590.
2012
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
Journal of medical genetics. 49(11):721-6 [DOI] 10.1136/jmedgenet-2012-101155. [PMID] 23125461.
2012
Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene database.
PLoS genetics. 8(3) [DOI] 10.1371/journal.pgen.1002548. [PMID] 22438815.
2012
Cognitive dysfunction in Tunisian LRRK2 associated Parkinson’s disease.
Parkinsonism & related disorders. 18(3):243-6 [DOI] 10.1016/j.parkreldis.2011.10.009. [PMID] 22056842.
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. 83(4):424-9 [DOI] 10.1136/jnnp-2011-301413. [PMID] 22291217.
2012
First neuropathological description of a patient with Parkinson’s disease and LRRK2 p.N1437H mutation.
Parkinsonism & related disorders. 18(4):332-8 [DOI] 10.1016/j.parkreldis.2011.11.019. [PMID] 22154298.
2011
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Annals of neurology. 69(5):778-92 [DOI] 10.1002/ana.22321. [PMID] 21391235.
2011
VPS35 mutations in Parkinson disease.
American journal of human genetics. 89(1):162-7 [DOI] 10.1016/j.ajhg.2011.06.001. [PMID] 21763482.
2011
Translation initiator EIF4G1 mutations in familial Parkinson disease.
American journal of human genetics. 89(3):398-406 [DOI] 10.1016/j.ajhg.2011.08.009. [PMID] 21907011.
2011
Subclinical signs in LRRK2 mutation carriers.
Parkinsonism & related disorders. 17(7):528-32 [DOI] 10.1016/j.parkreldis.2011.04.014. [PMID] 21641848.
2011
SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study.
European journal of neurology. 18(6):876-81 [DOI] 10.1111/j.1468-1331.2010.03297.x. [PMID] 21159074.
2011
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson’s disease.
Neurobiology of aging. 32(11):2108.e1-5 [DOI] 10.1016/j.neurobiolaging.2011.05.024. [PMID] 21782285.
2011
Parkinson-related genetics in patients treated with deep brain stimulation.
Acta neurologica Scandinavica. 123(3):201-6 [DOI] 10.1111/j.1600-0404.2010.01387.x. [PMID] 20545633.
2011
Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death.
Human mutation. 32(12):1390-7 [DOI] 10.1002/humu.21582. [PMID] 21850687.
2011
MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy.
Neurology. 76(7):670-2 [DOI] 10.1212/WNL.0b013e31820c30c1. [PMID] 21321341.
2011
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Nature genetics. 43(7):699-705 [DOI] 10.1038/ng.859. [PMID] 21685912.
2011
Lrrk2 p.Q1111H substitution and Parkinson’s disease in Latin America.
Parkinsonism & related disorders. 17(8):629-31 [DOI] 10.1016/j.parkreldis.2011.05.003. [PMID] 21632271.
2011
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
PLoS genetics. 7(7) [DOI] 10.1371/journal.pgen.1002171. [PMID] 21779176.
2011
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.
Neurology. 76(19):1623-30 [DOI] 10.1212/WNL.0b013e318219fb42. [PMID] 21555728.
2011
Glucocerebrosidase mutations in diffuse Lewy body disease.
Parkinsonism & related disorders. 17(1):55-7 [DOI] 10.1016/j.parkreldis.2010.09.009. [PMID] 20971030.
2011
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson’s disease.
Neurobiology of aging. 32(3):548.e9-18 [DOI] 10.1016/j.neurobiolaging.2009.11.021. [PMID] 20036034.
2011
Association of LRRK2 exonic variants with susceptibility to Parkinson’s disease: a case-control study.
The Lancet. Neurology. 10(10):898-908 [DOI] 10.1016/S1474-4422(11)70175-2. [PMID] 21885347.
2011
Call for participation in the neurogenetics consortium within the Human Variome Project.
Neurogenetics. 12(3):169-73 [DOI] 10.1007/s10048-011-0287-4. [PMID] 21630033.
2011
Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice.
Neurobiology of disease. 41(3):706-16 [DOI] 10.1016/j.nbd.2010.12.008. [PMID] 21168496.
2011
Death-associated protein kinase 1 variation and Parkinson’s disease.
European journal of neurology. 18(8):1090-3 [DOI] 10.1111/j.1468-1331.2010.03255.x. [PMID] 21749573.
2011
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson’s disease.
Human molecular genetics. 20(10):1966-74 [DOI] 10.1093/hmg/ddr077. [PMID] 21355049.
2011
Genetic variants of α-synuclein are not associated with essential tremor.
Movement disorders : official journal of the Movement Disorder Society. 26(14):2552-6 [DOI] 10.1002/mds.23909. [PMID] 22025277.
2011
Common variants in PARK loci and related genes and Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 26(2):280-8 [DOI] 10.1002/mds.23376. [PMID] 21412835.
2010
Lrrk2 localization in the primate basal ganglia and thalamus: a light and electron microscopic analysis in monkeys.
Experimental neurology. 224(2):438-47 [DOI] 10.1016/j.expneurol.2010.05.004. [PMID] 20483355.
2010
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease.
Neurogenetics. 11(4):401-8 [DOI] 10.1007/s10048-010-0241-x. [PMID] 20369371.
2010
LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.
Parkinsonism & related disorders. 16(2):109-11 [DOI] 10.1016/j.parkreldis.2009.08.006. [PMID] 19720553.
2010
LRRK2 and Parkinson disease.
Archives of neurology. 67(5):542-7 [DOI] 10.1001/archneurol.2010.79. [PMID] 20457952.
2010
Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice.
Neurobiology of disease. 40(3):503-17 [DOI] 10.1016/j.nbd.2010.07.010. [PMID] 20659558.
2010
LRRK2 variation and Parkinson’s disease in African Americans.
Movement disorders : official journal of the Movement Disorder Society. 25(12):1973-6 [DOI] 10.1002/mds.23163. [PMID] 20669299.
2010
Parkinson disease: Parkinson disease-moving beyond association.
Nature reviews. Neurology. 6(6):305-7 [DOI] 10.1038/nrneurol.2010.69. [PMID] 20531431.
2010
Mitochondrial translation initiation factor 3 polymorphism and Parkinson’s disease.
Neuroscience letters. 486(3):228-30 [DOI] 10.1016/j.neulet.2010.09.059. [PMID] 20887776.
2010
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 25(13):2156-63 [DOI] 10.1002/mds.23265. [PMID] 20669305.
2010
Reply to: SNCA variants are associated with increased risk of multiple system atrophy.
Annals of neurology. 67(3):414-5 [DOI] 10.1002/ana.21786. [PMID] 20373361.
2010
α-Synuclein gene may interact with environmental factors in increasing risk of Parkinson’s disease.
Neuroepidemiology. 35(3):191-5 [DOI] 10.1159/000315157. [PMID] 20664293.
2010
Histamine N-methyltransferase Thr105Ile is not associated with Parkinson’s disease or essential tremor.
Parkinsonism & related disorders. 16(2):112-4 [DOI] 10.1016/j.parkreldis.2009.08.011. [PMID] 19773194.
2010
Missing pieces in the Parkinson’s disease puzzle.
Nature medicine. 16(6):653-61 [DOI] 10.1038/nm.2165. [PMID] 20495568.
2010
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Mechanisms of ageing and development. 131(3):210-4 [DOI] 10.1016/j.mad.2010.01.009. [PMID] 20144646.
2010
Dopamine turnover increases in asymptomatic LRRK2 mutations carriers.
Movement disorders : official journal of the Movement Disorder Society. 25(16):2717-23 [DOI] 10.1002/mds.23356. [PMID] 20939082.
2010
Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson’s disease.
Parkinsonism & related disorders. 16(10):686-7 [DOI] 10.1016/j.parkreldis.2010.09.007. [PMID] 20971673.
2010
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.
Neuroscience letters. 477(2):57-60 [DOI] 10.1016/j.neulet.2009.11.066. [PMID] 19945510.
2010
A comparative study of Lrrk2 function in primary neuronal cultures.
Parkinsonism & related disorders. 16(10):650-5 [DOI] 10.1016/j.parkreldis.2010.08.018. [PMID] 20850369.
2010
A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson’s disease.
Journal of neurology, neurosurgery, and psychiatry. 81(4):391-5 [DOI] 10.1136/jnnp.2009.185231. [PMID] 19726410.
2010
Alpha-synuclein suppression by targeted small interfering RNA in the primate substantia nigra.
PloS one. 5(8) [DOI] 10.1371/journal.pone.0012122. [PMID] 20711464.
2010
An independent replication of PARK16 in Asian samples.
Neurology. 75(24):2248-9 [DOI] 10.1212/WNL.0b013e318202031f. [PMID] 21172849.
2010
Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.
Archives of neurology. 67(8):970-5 [DOI] 10.1001/archneurol.2010.177. [PMID] 20697047.
2010
Association of pyridoxal kinase and Parkinson disease.
Annals of neurology. 67(3):409-11 [DOI] 10.1002/ana.21962. [PMID] 20373354.
2010
Calbindin-1 association and Parkinson’s disease.
European journal of neurology. 17(2):208-11 [DOI] 10.1111/j.1468-1331.2009.02769.x. [PMID] 19674066.
2010
Autonomic failures in Perry syndrome with DCTN1 mutation.
Parkinsonism & related disorders. 16(9):612-4 [DOI] 10.1016/j.parkreldis.2010.07.001. [PMID] 20702129.
2010
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson’s disease from North Africa.
Movement disorders : official journal of the Movement Disorder Society. 25(13):2052-8 [DOI] 10.1002/mds.23283. [PMID] 20721913.
2010
Elucidating the genetics and pathology of Perry syndrome.
Journal of the neurological sciences. 289(1-2):149-54 [DOI] 10.1016/j.jns.2009.08.044. [PMID] 19732908.
2010
Genealogical studies in LRRK2-associated Parkinson’s disease in central Norway.
Parkinsonism & related disorders. 16(8):527-30 [DOI] 10.1016/j.parkreldis.2010.05.005. [PMID] 20621541.
2010
Association of the MAPT locus with Parkinson’s disease.
European journal of neurology. 17(3):483-6 [DOI] 10.1111/j.1468-1331.2009.02847.x. [PMID] 19912324.
2009
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.
Parkinsonism & related disorders. 15(6):466-7 [DOI] 10.1016/j.parkreldis.2008.09.001. [PMID] 18952485.
2009
GRN 3’UTR+78 C>T is not associated with risk for Parkinson’s disease.
European journal of neurology. 16(8):909-11 [DOI] 10.1111/j.1468-1331.2009.02621.x. [PMID] 19473366.
2009
Glucosidase-beta variations and Lewy body disorders.
Parkinsonism & related disorders. 15(6):414-6 [DOI] 10.1016/j.parkreldis.2008.08.004. [PMID] 18829375.
2009
Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society. 24(1):104-8 [DOI] 10.1002/mds.22093. [PMID] 19006224.
2009
Genetic factors influencing age at onset in LRRK2-linked Parkinson disease.
Parkinsonism & related disorders. 15(7):539-41 [DOI] 10.1016/j.parkreldis.2008.10.008. [PMID] 19041274.
2009
GCH1 in early-onset Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 24(14):2070-5 [DOI] 10.1002/mds.22729. [PMID] 19735094.
2009
GCH1 expression in human cerebellum from healthy individuals is not gender dependent.
Neuroscience letters. 462(1):73-5 [DOI] 10.1016/j.neulet.2009.06.082. [PMID] 19573577.
2009
Fine-mapping and candidate gene investigation within the PARK10 locus.
European journal of human genetics : EJHG. 17(3):336-43 [DOI] 10.1038/ejhg.2008.187. [PMID] 18854859.
2009
FGF20 and Parkinson’s disease: no evidence of association or pathogenicity via alpha-synuclein expression.
Movement disorders : official journal of the Movement Disorder Society. 24(3):455-9 [DOI] 10.1002/mds.22442. [PMID] 19133659.
2009
Expanding the clinical phenotype of SNCA duplication carriers.
Movement disorders : official journal of the Movement Disorder Society. 24(12):1811-9 [DOI] 10.1002/mds.22682. [PMID] 19562770.
2009
DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.
Neuroscience letters. 461(2):74-5 [DOI] 10.1016/j.neulet.2009.05.084. [PMID] 19524641.
2009
Dopamine transporter genetic variants and pesticides in Parkinson’s disease.
Environmental health perspectives. 117(6):964-9 [DOI] 10.1289/ehp.0800277. [PMID] 19590691.
2009
DCTN1 mutations in Perry syndrome.
Nature genetics. 41(2):163-5 [DOI] 10.1038/ng.293. [PMID] 19136952.
2009
Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome.
Mayo Clinic proceedings. 84(2):134-8 [DOI] 10.1016/S0025-6196(11)60821-5. [PMID] 19181647.
2009
Characterization of DCTN1 genetic variability in neurodegeneration.
Neurology. 72(23):2024-8 [DOI] 10.1212/WNL.0b013e3181a92c4c. [PMID] 19506225.
2009
Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson’s disease.
Parkinsonism & related disorders. 15(6):417-21 [DOI] 10.1016/j.parkreldis.2008.11.009. [PMID] 19196541.
2009
Alpha-synuclein polymorphisms are associated with Parkinson’s disease in a Saskatchewan population.
Movement disorders : official journal of the Movement Disorder Society. 24(16):2411-4 [DOI] 10.1002/mds.22795. [PMID] 19890971.
2009
Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?
Parkinsonism & related disorders. 15(5):390-2 [DOI] 10.1016/j.parkreldis.2008.08.002. [PMID] 18824390.
2009
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
Parkinsonism & related disorders. 15(9):627-32 [DOI] 10.1016/j.parkreldis.2009.06.007. [PMID] 19632874.
2009
MEIS1 p.R272H in familial restless legs syndrome.
Neurology. 73(3):243-5 [DOI] 10.1212/WNL.0b013e3181ae7c79. [PMID] 19620614.
2009
Evaluation of gastric emptying in familial and sporadic Parkinson disease.
Parkinsonism & related disorders. 15(9):692-6 [DOI] 10.1016/j.parkreldis.2009.04.003. [PMID] 19451015.
2009
ATP13A2 variability in Parkinson disease.
Human mutation. 30(3):406-10 [DOI] 10.1002/humu.20877. [PMID] 19085912.
2009
Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease.
The New England journal of medicine. 361(17):1651-61 [DOI] 10.1056/NEJMoa0901281. [PMID] 19846850.
2009
Phactr2 and Parkinson’s disease.
Neuroscience letters. 453(1):9-11 [DOI] 10.1016/j.neulet.2009.02.009. [PMID] 19429005.
2009
Reported mutations in GIGYF2 are not a common cause of Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 24(4):619-20 [DOI] 10.1002/mds.22451. [PMID] 19133664.
2009
Pallidonigral TDP-43 pathology in Perry syndrome.
Parkinsonism & related disorders. 15(4):281-6 [DOI] 10.1016/j.parkreldis.2008.07.005. [PMID] 18723384.
2008
The genetics and molecular biology of alpha-synuclein.
Handbook of clinical neurology. 89:313-9 [DOI] 10.1016/S0072-9752(07)01230-4. [PMID] 18631756.
2008
Susceptibility genes for restless legs syndrome are not associated with Parkinson disease.
Neurology. 71(3):222-3 [DOI] 10.1212/01.wnl.0000317101.67684.e3. [PMID] 18625969.
2008
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.
Neurology. 70(16 Pt 2):1377-83 [PMID] 17804835.
View on: PubMed
2008
Progression of dopaminergic dysfunction in a LRRK2 kindred: a multitracer PET study.
Neurology. 71(22):1790-5 [DOI] 10.1212/01.wnl.0000335973.66333.58. [PMID] 19029519.
2008
Multiple alpha-synuclein gene polymorphisms are associated with Parkinson’s disease in a Norwegian population.
Acta neurologica Scandinavica. 118(5):320-7 [DOI] 10.1111/j.1600-0404.2008.01019.x. [PMID] 18485051.
2008
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Neurology. 70(16 Pt 2):1456-60 [DOI] 10.1212/01.wnl.0000304044.22253.03. [PMID] 18337586.
2008
LRRK2 mutation in familial Parkinson’s disease in a Taiwanese population: clinical, PET, and functional studies.
Journal of biomedical science. 15(5):661-7 [DOI] 10.1007/s11373-008-9260-0. [PMID] 18523869.
2008
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic study.
The Lancet. Neurology. 7(7):591-4 [DOI] 10.1016/S1474-4422(08)70116-9. [PMID] 18539535.
2008
In vivo silencing of alpha-synuclein using naked siRNA.
Molecular neurodegeneration. 3 [DOI] 10.1186/1750-1326-3-19. [PMID] 18976489.
2008
PINK1 mutations and parkinsonism.
Neurology. 71(12):896-902 [DOI] 10.1212/01.wnl.0000323812.40708.1f. [PMID] 18685134.
2008
Genetic variation of Omi/HtrA2 and Parkinson’s disease.
Parkinsonism & related disorders. 14(7):539-43 [DOI] 10.1016/j.parkreldis.2008.08.003. [PMID] 18790661.
2008
Genetic association study of synphilin-1 in idiopathic Parkinson’s disease.
BMC medical genetics. 9 [DOI] 10.1186/1471-2350-9-19. [PMID] 18366718.
2008
Dopamine beta-hydroxylase -1021C>T association and Parkinson’s disease.
Parkinsonism & related disorders. 14(7):544-7 [DOI] 10.1016/j.parkreldis.2008.07.002. [PMID] 18722802.
2008
Clinical characteristics of Parkinson’s disease among Jewish Ethnic groups in Israel.
Journal of neural transmission (Vienna, Austria : 1996). 115(9):1279-84 [DOI] 10.1007/s00702-008-0074-z. [PMID] 18665323.
2008
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.
Parkinsonism & related disorders. 14(6):465-70 [DOI] 10.1016/j.parkreldis.2007.11.013. [PMID] 18342564.
2008
Are Parkinson disease patients protected from some but not all cancers?
Neurology. 71(20):1650; author reply 1650-1 [DOI] 10.1212/01.wnl.0000339367.54460.8c. [PMID] 19001259.
2008
Analysis of Lrrk2 R1628P as a risk factor for Parkinson’s disease.
Annals of neurology. 64(1):88-92 [DOI] 10.1002/ana.21405. [PMID] 18412265.
2008
Alpha-synuclein, pesticides, and Parkinson disease: a case-control study.
Neurology. 70(16 Pt 2):1461-9 [DOI] 10.1212/01.wnl.0000304049.31377.f2. [PMID] 18322262.
2008
A genetic risk factor for periodic limb movements in sleep.
The New England journal of medicine. 358(4):425-7 [DOI] 10.1056/NEJMc072518. [PMID] 18216367.
2008
Genomic investigation of alpha-synuclein multiplication and parkinsonism.
Annals of neurology. 63(6):743-50 [DOI] 10.1002/ana.21380. [PMID] 18571778.
2007
Lrrk2 in the limelight!
Neurology. 69(18):1732-3 [PMID] 17967990.
View on: PubMed
2007
Lrrk2 mutations in South America: A study of Chilean Parkinson’s disease.
Neuroscience letters. 422(3):193-7 [PMID] 17614198.
View on: PubMed
2007
Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain.
Parkinsonism & related disorders. 13(8):509-15 [PMID] 17540608.
View on: PubMed
2007
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson’s disease.
Journal of neuroscience research. 85(6):1288-94 [PMID] 17385669.
View on: PubMed
2007
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 22(3):389-92 [PMID] 17216639.
View on: PubMed
2007
Phenotypic associations of tau and ApoE in Parkinson’s disease.
Neuroscience letters. 414(2):141-4 [PMID] 17204369.
View on: PubMed
2007
The ups and downs of alpha-synuclein mRNA expression.
Movement disorders : official journal of the Movement Disorder Society. 22(2):293-5 [PMID] 17094104.
View on: PubMed
2007
PINK1 mutation heterozygosity and the risk of Parkinson’s disease.
Journal of neurology, neurosurgery, and psychiatry. 78(1):82-4 [PMID] 17172567.
View on: PubMed
2007
Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy.
Parkinsonism & related disorders. 13(6):340-2 [PMID] 17291816.
View on: PubMed
2007
Variants in the LRRK1 gene and susceptibility to Parkinson’s disease in Norway.
Neuroscience letters. 416(3):299-301 [PMID] 17324517.
View on: PubMed
2007
Lrrk2 G2385R is an ancestral risk factor for Parkinson’s disease in Asia.
Parkinsonism & related disorders. 13(2):89-92 [PMID] 17222580.
View on: PubMed
2007
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.
Neurology. 68(12):916-22 [PMID] 17251522.
View on: PubMed
2007
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions.
Acta neuropathologica. 113(5):601-6 [PMID] 17151837.
View on: PubMed
2007
Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis.
Journal of neural transmission (Vienna, Austria : 1996). 114(3):327-9 [PMID] 16865326.
View on: PubMed
2007
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease.
Neurogenetics. 8(2):95-102 [PMID] 17225181.
View on: PubMed
2007
LRRK2 and Parkinson’s disease in Norway.
Acta neurologica Scandinavica. Supplementum. 187:72-5 [PMID] 17419834.
View on: PubMed
2007
Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Parkinsonism & related disorders. 13(3):139-42 [PMID] 17049295.
View on: PubMed
2007
Beta-synuclein gene variants and Parkinson’s disease: a preliminary case-control study.
Neuroscience letters. 420(3):229-34 [PMID] 17556099.
View on: PubMed
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 (Vienna, Austria : 1996). 114(7):947-50 [PMID] 17318302.
View on: PubMed
2007
Common variants in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 22(6):899-900 [PMID] 17377919.
View on: PubMed
2007
ELAVL4, PARK10, and the Celts.
Movement disorders : official journal of the Movement Disorder Society. 22(4):585-7 [PMID] 17230446.
View on: PubMed
2007
alpha-Synuclein and Parkinson disease susceptibility.
Neurology. 69(18):1745-50 [PMID] 17872362.
View on: PubMed
2007
A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease.
Neuroscience. 147(4):1047-58 [PMID] 17611037.
View on: PubMed
2007
Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson’s disease kindred.
Movement disorders : official journal of the Movement Disorder Society. 22(2):291-2 [PMID] 17089395.
View on: PubMed
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. 80(4):769-78 [PMID] 17357082.
View on: PubMed
2007
Identification of potential protein interactors of Lrrk2.
Parkinsonism & related disorders. 13(7):382-5 [PMID] 17400507.
View on: PubMed
2007
Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson’s disease.
Parkinsonism & related disorders. 13(7):386-8 [PMID] 17400506.
View on: PubMed
2007
Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson’s disease.
Mechanisms of ageing and development. 128(5-6):378-82 [PMID] 17531291.
View on: PubMed
2006
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.
Neurology. 66(3):415-7 [PMID] 16476943.
View on: PubMed
2006
Lrrk2 and Lewy body disease.
Annals of neurology. 59(2):388-93 [PMID] 16437559.
View on: PubMed
2006
LRRK2 gene and tremor-dominant parkinsonism.
Archives of neurology. 63(9):1346-7 [PMID] 16966525.
View on: PubMed
2006
LRRK2 in Parkinson’s disease: protein domains and functional insights.
Trends in neurosciences. 29(5):286-93 [PMID] 16616379.
View on: PubMed
2006
LRRK2 mutations are a common cause of Parkinson’s disease in Spain.
European journal of neurology. 13(4):391-4 [PMID] 16643318.
View on: PubMed
2006
LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?
Trends in molecular medicine. 12(2):76-82 [PMID] 16406842.
View on: PubMed
2006
Parkinson’s disease: a rethink of rodent models.
Experimental brain research. 173(2):196-204 [PMID] 16639500.
View on: PubMed
2006
Parkinsonism, Lrrk2 G2019S, and tau neuropathology.
Neurology. 67(8):1506-8 [PMID] 17060589.
View on: PubMed
2006
Phenotypic commonalities in familial and sporadic Parkinson disease.
Archives of neurology. 63(4):579-83 [PMID] 16606772.
View on: PubMed
2006
Lrrk2 R1441 substitution and progressive supranuclear palsy.
Neuropathology and applied neurobiology. 32(1):23-5 [PMID] 16409550.
View on: PubMed
2006
Genomewide association, Parkinson disease, and PARK10.
American journal of human genetics. 78(6):1084-8; author reply 1092 [PMID] 16685661.
View on: PubMed
2006
Genetics of Parkinson disease: paradigm shifts and future prospects.
Nature reviews. Genetics. 7(4):306-18 [PMID] 16543934.
View on: PubMed
2006
Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.
Neuroscience letters. 410(2):80-4 [PMID] 17095157.
View on: PubMed
2006
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.
JAMA. 296(6):661-70 [PMID] 16896109.
View on: PubMed
2006
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson’s disease patients from 18 countries.
Movement disorders : official journal of the Movement Disorder Society. 21(8):1102-8 [PMID] 16622854.
View on: PubMed
2006
Clinical heterogeneity of the LRRK2 G2019S mutation.
Archives of neurology. 63(9):1242-6 [PMID] 16966501.
View on: PubMed
2006
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson’s disease.
Annals of neurology. 59(2):298-309 [PMID] 16358335.
View on: PubMed
2006
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Archives of neurology. 63(9):1250-4 [PMID] 16966502.
View on: PubMed
2006
Clinical and pathologic features of families with LRRK2-associated Parkinson’s disease.
Journal of neural transmission. Supplementum. (70):221-9 [PMID] 17017533.
View on: PubMed
2006
Biochemical and pathological characterization of Lrrk2.
Annals of neurology. 59(2):315-22 [PMID] 16437584.
View on: PubMed
2006
Atypical Parkinsonism and SCA8.
Parkinsonism & related disorders. 12(6) [PMID] 16846746.
View on: PubMed
2006
Anatomical localization of leucine-rich repeat kinase 2 in mouse brain.
Neuroscience. 139(3):791-4 [PMID] 16504409.
View on: PubMed
2006
Genetics of restless legs syndrome.
Parkinsonism & related disorders. 12(1):1-7 [PMID] 16399043.
View on: PubMed
2005
LRRK2 R1441G in Spanish patients with Parkinson’s disease.
Neuroscience letters. 382(3):309-11 [PMID] 15925109.
View on: PubMed
2005
PARK11 is not linked with Parkinson’s disease in European families.
European journal of human genetics : EJHG. 13(2):193-7 [PMID] 15523496.
View on: PubMed
2005
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.
Archives of neurology. 62(1):82-7 [PMID] 15642853.
View on: PubMed
2005
Parkinsonism, FXTAS, and FMR1 premutations.
Movement disorders : official journal of the Movement Disorder Society. 20(2):230-3 [PMID] 15390127.
View on: PubMed
2005
Pathophysiology, pleiotrophy and paradigm shifts: genetic lessons from Parkinson’s disease.
Biochemical Society transactions. 33(Pt 4):586-90 [PMID] 16042550.
View on: PubMed
2005
The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson’s disease patients.
Neuroscience letters. 384(3):327-9 [PMID] 15955629.
View on: PubMed
2005
Lrrk2 pathogenic substitutions in Parkinson’s disease.
Neurogenetics. 6(4):171-7 [PMID] 16172858.
View on: PubMed
2005
Tau kinases and Parkinson’s disease: guilt by association?
Annals of neurology. 58(6):819-20 [PMID] 16315283.
View on: PubMed
2005
The effect of tau genotype on clinical features in FTDP-17.
Parkinsonism & related disorders. 11(4):205-8 [PMID] 15878580.
View on: PubMed
2005
PET in LRRK2 mutations: comparison to sporadic Parkinson’s disease and evidence for presymptomatic compensation.
Brain : a journal of neurology. 128(Pt 12):2777-85 [PMID] 16081470.
View on: PubMed
2005
LRRK2 mutations in Parkinson disease.
Neurology. 65(5):738-40 [PMID] 16157908.
View on: PubMed
2005
Sporadic SCA8 mutation resembling corticobasal degeneration.
Parkinsonism & related disorders. 11(3):147-50 [PMID] 15823478.
View on: PubMed
2005
LRRK2 mutations and Parkinsonism.
Lancet (London, England). 365(9466):1229-30 [PMID] 15811454.
View on: PubMed
2005
LRRK2 mutations are not common in Alzheimer’s disease.
Mechanisms of ageing and development. 126(11):1201-5 [PMID] 16087219.
View on: PubMed
2005
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson’s disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 136B(1):72-4 [PMID] 15924299.
View on: PubMed
2005
Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism.
Journal of neural transmission (Vienna, Austria : 1996). 112(11):1487-502 [PMID] 15785861.
View on: PubMed
2005
Clinical features of LRRK2-associated Parkinson’s disease in central Norway.
Annals of neurology. 57(5):762-5 [PMID] 15852371.
View on: PubMed
2005
Clinical traits of LRRK2-associated Parkinson’s disease in Ireland: a link between familial and idiopathic PD.
Parkinsonism & related disorders. 11(6):349-52 [PMID] 16102999.
View on: PubMed
2005
Analysis of LRRK2 functional domains in nondominant Parkinson disease.
Neurology. 65(8):1319-21 [PMID] 16247070.
View on: PubMed
2005
High-resolution whole-genome association study of Parkinson disease.
American journal of human genetics. 77(5):685-93 [PMID] 16252231.
View on: PubMed
2005
Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.
Neuroscience letters. 380(3):257-9 [PMID] 15862897.
View on: PubMed
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. 76(4):672-80 [PMID] 15726496.
View on: PubMed
2005
Interaction of alpha-synuclein and tau genotypes in Parkinson’s disease.
Annals of neurology. 57(3):439-43 [PMID] 15732111.
View on: PubMed
2005
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.
Archives of neurology. 62(6):962-6 [PMID] 15956167.
View on: PubMed
2004
It’s a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).
Movement disorders : official journal of the Movement Disorder Society. 19(1):101-4 [PMID] 14743368.
View on: PubMed
2004
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.
American journal of human genetics. 74(1):11-9 [PMID] 14691730.
View on: PubMed
2004
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
Movement disorders : official journal of the Movement Disorder Society. 19(6):622-9 [PMID] 15197699.
View on: PubMed
2004
Parkinson’s disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations.
Movement disorders : official journal of the Movement Disorder Society. 19(6):677-81 [PMID] 15197707.
View on: PubMed
2004
Parkin genetics: one model for Parkinson’s disease.
Human molecular genetics. 13 Spec No 1:R127-33 [PMID] 14976155.
View on: PubMed
2004
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Neuron. 44(4):601-7 [PMID] 15541309.
View on: PubMed
2004
Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease.
Journal of molecular neuroscience : MN. 24(3):337-42 [PMID] 15655258.
View on: PubMed
2004
Linkage disequilibrium and association of MAPT H1 in Parkinson disease.
American journal of human genetics. 75(4):669-77 [PMID] 15297935.
View on: PubMed
2004
Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism.
Movement disorders : official journal of the Movement Disorder Society. 19(9):1065-9 [PMID] 15372597.
View on: PubMed
2004
Identification of the human ubiquitin specific protease 31 (USP31) gene: structure, sequence and expression analysis.
DNA sequence : the journal of DNA sequencing and mapping. 15(1):9-14 [PMID] 15354349.
View on: PubMed
2004
N-myc regulates parkin expression.
The Journal of biological chemistry. 279(28):28896-902 [PMID] 15078880.
View on: PubMed
2004
Genome-wide analysis of the parkinsonism-dementia complex of Guam.
Archives of neurology. 61(12):1889-97 [PMID] 15596609.
View on: PubMed
2004
Alpha-synuclein locus duplication as a cause of familial Parkinson’s disease.
Lancet (London, England). 364(9440):1167-9 [PMID] 15451224.
View on: PubMed
2004
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease.
Journal of medical genetics. 41(12):900-7 [PMID] 15591275.
View on: PubMed
2004
alpha-Synuclein promoter confers susceptibility to Parkinson’s disease.
Annals of neurology. 56(4):591-5 [PMID] 15455394.
View on: PubMed
2004
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Neurology. 62(9):1619-22 [PMID] 15136696.
View on: PubMed
2004
A limited role for DJ1 in Parkinson disease susceptibility.
Neurology. 63(3):550-3 [PMID] 15304593.
View on: PubMed
2004
Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson’s disease.
Neuroscience letters. 367(1):97-100 [PMID] 15308306.
View on: PubMed
2004
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications.
Annals of neurology. 55(2):174-9 [PMID] 14755720.
View on: PubMed
2004
DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function.
Journal of medical genetics. 41(3) [PMID] 14985393.
View on: PubMed
2004
Genetic association studies in Alzheimer’s disease research: challenges and opportunities.
Statistics in medicine. 23(2):169-78 [PMID] 14716719.
View on: PubMed
2004
Clinical findings in a large family with a parkin ex3delta40 mutation.
Archives of neurology. 61(5):701-4 [PMID] 15148147.
View on: PubMed
2003
Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci.
Parkinsonism & related disorders. 9(4):193-200 [PMID] 12618053.
View on: PubMed
2003
SCA2 may present as levodopa-responsive parkinsonism.
Movement disorders : official journal of the Movement Disorder Society. 18(4):425-9 [PMID] 12671950.
View on: PubMed
2003
RING finger 1 mutations in Parkin produce altered localization of the protein.
Human molecular genetics. 12(22):2957-65 [PMID] 14519684.
View on: PubMed
2003
Parkin-proven disease: common founders but divergent phenotypes.
Neurology. 60(10):1605-10 [PMID] 12771249.
View on: PubMed
2003
Parkin variants in North American Parkinson’s disease: cases and controls.
Movement disorders : official journal of the Movement Disorder Society. 18(11):1306-11 [PMID] 14639672.
View on: PubMed
2003
Parkin is not regulated by the unfolded protein response in human neuroblastoma cells.
Neuroscience letters. 341(2):139-42 [PMID] 12686385.
View on: PubMed
2003
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Neurology. 60(8):1378-81 [PMID] 12707451.
View on: PubMed
2003
Identification of a novel gene linked to parkin via a bi-directional promoter.
Journal of molecular biology. 326(1):11-9 [PMID] 12547187.
View on: PubMed
2003
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson’s disease.
Human molecular genetics. 12(11):1223-31 [PMID] 12761037.
View on: PubMed
2003
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
Neurology. 61(10):1423-6 [PMID] 14638969.
View on: PubMed
2003
Complex interactions in Parkinson’s disease: a two-phased approach.
Movement disorders : official journal of the Movement Disorder Society. 18(6):631-6 [PMID] 12784265.
View on: PubMed
2003
Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein in human neuroblastoma cell lines.
Journal of neurochemistry. 85(4):957-68 [PMID] 12716427.
View on: PubMed
2003
Case-control study of the alpha-synuclein interacting protein gene and Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 18(11):1233-9 [PMID] 14639662.
View on: PubMed
2003
alpha-Synuclein locus triplication causes Parkinson’s disease.
Science (New York, N.Y.). 302(5646) [PMID] 14593171.
View on: PubMed
2003
Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.
Movement disorders : official journal of the Movement Disorder Society. 18(7):758-63 [PMID] 12815654.
View on: PubMed
2002
Two large British kindreds with familial Parkinson’s disease: a clinico-pathological and genetic study.
Brain : a journal of neurology. 125(Pt 1):44-57 [PMID] 11834592.
View on: PubMed
2002
The tau H1 haplotype is associated with Parkinson’s disease in the Norwegian population.
Neuroscience letters. 322(2):83-6 [PMID] 11958849.
View on: PubMed
2002
Identifying genetic factors in Parkinson disease.
JAMA. 287(6):715-6 [PMID] 11851532.
View on: PubMed
2002
The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.
Gene. 285(1-2):229-37 [PMID] 12039050.
View on: PubMed
2002
Tau neurotoxicity without the lesions: a fly challenges a tangled web.
Trends in neurosciences. 25(7):327-9 [PMID] 12079751.
View on: PubMed
2002
SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.
Neurology. 59(10):1625-7 [PMID] 12451209.
View on: PubMed
2002
Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons.
Neuron. 36(6):1007-19 [PMID] 12495618.
View on: PubMed
2002
Functional association of the parkin gene promoter with idiopathic Parkinson’s disease.
Human molecular genetics. 11(22):2787-92 [PMID] 12374768.
View on: PubMed
2002
Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.
Genetic testing. 6(3):217-20 [PMID] 12490063.
View on: PubMed
2002
Complex relationship between Parkin mutations and Parkinson disease.
American journal of medical genetics. 114(5):584-91 [PMID] 12116199.
View on: PubMed
2002
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
Movement disorders : official journal of the Movement Disorder Society. 17(4):670-5 [PMID] 12210855.
View on: PubMed
2002
Case-control study of estrogen receptor gene polymorphisms in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 17(3):509-12 [PMID] 12112198.
View on: PubMed
2002
Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 17(6):1305-11 [PMID] 12465073.
View on: PubMed
2002
A multi-incident, Old-Order Amish family with PD.
Neurology. 58(4):568-74 [PMID] 11865134.
View on: PubMed
2002
A family with a tau P301L mutation presenting with parkinsonism.
Parkinsonism & related disorders. 9(2):121-3 [PMID] 12473404.
View on: PubMed
2002
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
Movement disorders : official journal of the Movement Disorder Society. 17(5):1068-71 [PMID] 12360561.
View on: PubMed
2001
Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells.
Brain research. Molecular brain research. 97(1):94-102 [PMID] 11744167.
View on: PubMed
2001
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family.
Archives of neurology. 58(2):296-9 [PMID] 11176969.
View on: PubMed
2001
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.
European journal of human genetics : EJHG. 9(9):659-66 [PMID] 11571553.
View on: PubMed
2001
Pathology of PD in monozygotic twins with a 20-year discordance interval.
Neurology. 56(7):981-2 [PMID] 11294946.
View on: PubMed
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. 68(3):617-26 [PMID] 11179010.
View on: PubMed
2001
Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter.
Neurobiology of disease. 8(3):535-9 [PMID] 11442360.
View on: PubMed
2001
Genetic analysis of synphilin-1 in familial Parkinson’s disease.
Neurobiology of disease. 8(2):317-23 [PMID] 11300726.
View on: PubMed
2001
Case-Control study of the extended tau gene haplotype in Parkinson’s disease.
Annals of neurology. 50(5):658-61 [PMID] 11706972.
View on: PubMed
2001
alpha-Synuclein gene haplotypes are associated with Parkinson’s disease.
Human molecular genetics. 10(17):1847-51 [PMID] 11532993.
View on: PubMed
2001
Lewy bodies and parkinsonism in families with parkin mutations.
Annals of neurology. 50(3):293-300 [PMID] 11558785.
View on: PubMed
2000
Linkage exclusion in French families with probable Parkinson’ s disease.
Movement disorders : official journal of the Movement Disorder Society. 15(6):1075-83 [PMID] 11104189.
View on: PubMed
2000
Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
Human genetics. 107(5):476-82 [PMID] 11140945.
View on: PubMed
2000
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.
Neurology. 55(6):800-5 [PMID] 10993999.
View on: PubMed
2000
Case-control study of debrisoquine 4-hydroxylase, N-acetyltransferase 2, and apolipoprotein E gene polymorphisms in Parkinson’s disease.
Movement disorders : official journal of the Movement Disorder Society. 15(4):714-9 [PMID] 10928584.
View on: PubMed
2000
A kindred with Parkinson’s disease not showing genetic linkage to established loci.
Neurology. 54(2):504-7 [PMID] 10668726.
View on: PubMed
2000
Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.
Acta neuropathologica. 99(6):663-72 [PMID] 10867800.
View on: PubMed
1999
A chromosome 4p haplotype segregating with Parkinson’s disease and postural tremor.
Human molecular genetics. 8(1):81-5 [PMID] 9887334.
View on: PubMed
1999
Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson’s disease.
Neurology. 53(8):1858-60 [PMID] 10563640.
View on: PubMed
1999
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson’s disease.
Neuroreport. 10(2):427-9 [PMID] 10203348.
View on: PubMed
1999
No pathogenic mutations in the beta-synuclein gene in Parkinson’s disease.
Neuroscience letters. 269(2):107-9 [PMID] 10430516.
View on: PubMed
1999
No pathogenic mutations in the persyn gene in Parkinson’s disease.
Neuroscience letters. 259(1):65-6 [PMID] 10027558.
View on: PubMed
1999
The genetics of disorders with synuclein pathology and parkinsonism.
Human molecular genetics. 8(10):1901-5 [PMID] 10469843.
View on: PubMed
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. 270(1):1-4 [PMID] 10454131.
View on: PubMed
1999
Widespread alterations of alpha-synuclein in multiple system atrophy.
The American journal of pathology. 155(4):1241-51 [PMID] 10514406.
View on: PubMed
1998
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson’s disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson’s Disease (GSPD).
Human molecular genetics. 7(4):751-3 [PMID] 9499430.
View on: PubMed
1998
Molecular mapping of Alzheimer-type dementia in Down’s syndrome
Annals of Neurology. 43(3):380-3 [DOI] 10.1002/ana.410430316. [PMID] 9506555.
1998
Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism.
American journal of medical genetics. 81(2):166-71 [PMID] 9613857.
View on: PubMed
1998
A variant of Alzheimer’s disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.
Nature medicine. 4(4):452-5 [PMID] 9546792.
View on: PubMed
1998
Low frequency of alpha-synuclein mutations in familial Parkinson’s disease.
Annals of neurology. 43(3):394-7 [PMID] 9506559.
View on: PubMed
1997
Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome.
Neuroreport. 8(7):1645-9 [PMID] 9189907.
View on: PubMed
1997
Genetics of Parkinson’s disease.
Science (New York, N.Y.). 278(5341):1212-3 [PMID] 9411743.
View on: PubMed
1997
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.
Annals of neurology. 42(5):794-8 [PMID] 9392579.
View on: PubMed
1995
Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down’s syndrome).
Annals of human genetics. 59(3):253-69 [PMID] 7486833.
View on: PubMed
1994
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.
Human genetics. 93(4):443-6 [PMID] 7909528.
View on: PubMed
1993
Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.
American journal of human genetics. 53(2):462-71 [PMID] 8101041.
View on: PubMed
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. 90(5):521-5 [PMID] 8094066.
View on: PubMed

Education

Ph.D., Human Genetics
1991-1996 · St. Mary's Hospital Medical School, Imperial College, London, England
BSc. Biochemistry
1986-1991 · King's College, London England

Teaching Profile

Courses Taught
2020
GMS7794 Neuroscience Seminar

Contact Details

Phones:
Business:
(352) 273-5611
Emails:
Business:
m.farrer@ufl.edu