Matthew James Farrer

Matthew James Farrer's AcademicInfluence.com Rankings

Biology

#9766

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#13011

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Neuroscience

#1451

World Rank

#1501

Historical Rank

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Biology

Matthew James Farrer's Degrees

PhD Neuroscience University of California, San Francisco
Bachelors Biology University of California, Berkeley

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Matthew James Farrer's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

α-Synuclein Locus Triplication Causes Parkinson's Disease (2003) (3683)
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology (2004) (2782)
alpha-Synuclein locus triplication causes Parkinson's disease. (2003) (2042)
α-synuclein locus duplication as a cause of familial Parkinson's disease (2004) (1634)
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (2009) (965)
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. (2004) (956)
VPS35 mutations in Parkinson disease. (2011) (784)
Missing pieces in the Parkinson's disease puzzle (2010) (697)
Genetics of Parkinson disease: paradigm shifts and future prospects (2006) (691)
Comparison of kindreds with parkinsonism and α‐synuclein genomic multiplications (2004) (606)
Parkin Protects against the Toxicity Associated with Mutant α-Synuclein Proteasome Dysfunction Selectively Affects Catecholaminergic Neurons (2002) (579)
Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease (2013) (556)
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database (2012) (546)
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. (2005) (540)
High-resolution whole-genome association study of Parkinson disease. (2005) (535)
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. (2006) (505)
α-Synuclein Shares Physical and Functional Homology with 14-3-3 Proteins (1999) (499)
Lewy bodies and parkinsonism in families with parkin mutations (2001) (488)
LRRK2 in Parkinson's disease: protein domains and functional insights (2006) (485)
Advances in the genetics of Parkinson disease (2013) (433)
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication (2007) (401)
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. (2004) (371)
Molecular mapping of alzheimer‐type dementia in Down's syndrome (1998) (358)
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 (1998) (339)
α-synuclein gene haplotypes are associated with Parkinson’s disease (2001) (334)
Translation initiator EIF4G1 mutations in familial Parkinson disease. (2011) (290)
DCTN1 mutations in Perry syndrome (2009) (286)
Lack of Nigral Pathology in Transgenic Mice Expressing Human α-Synuclein Driven by the Tyrosine Hydroxylase Promoter (2001) (272)
DNAJC13 mutations in Parkinson disease. (2014) (269)
Widespread Alterations of α-Synuclein in Multiple System Atrophy (1999) (267)
Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease (2006) (265)
Lrrk2 and Lewy body disease (2006) (260)
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. (1999) (259)
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology (2004) (258)
PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. (2005) (257)
Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice (2010) (254)
Lrrk2 pathogenic substitutions in Parkinson's disease (2005) (250)
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study (2011) (246)
Biochemical and pathological characterization of Lrrk2 (2006) (239)
Genomic investigation of α‐synuclein multiplication and parkinsonism (2008) (231)
alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. (1999) (213)
Complex relationship between Parkin mutations and Parkinson disease. (2002) (212)
Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson’s disease (1999) (207)
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. (2004) (207)
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese (2000) (205)
Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia. (2007) (204)
Parkinsonism, Lrrk2 G2019S, and tau neuropathology (2006) (201)
α‐Synuclein promoter confers susceptibility to Parkinson's disease (2004) (195)
Parkin genetics: one model for Parkinson's disease. (2004) (194)
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease (2008) (191)
Clinical features of LRRK2‐associated Parkinson's disease in central Norway (2005) (188)
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project (2010) (187)
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. (2006) (183)
Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p (2000) (182)
Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 (2011) (172)
Dopamine Transporter Genetic Variants and Pesticides in Parkinson’s Disease (2009) (170)
LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors (2012) (170)
alpha-Synuclein gene haplotypes are associated with Parkinson's disease. (2001) (164)
LRRK2 Gly2019Ser penetrance in Arab–Berber patients from Tunisia: a case-control genetic study (2008) (160)
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease. (2011) (160)
RING finger 1 mutations in Parkin produce altered localization of the protein. (2003) (155)
Co‐ordinate transcriptional regulation of dopamine synthesis genes by α‐synuclein in human neuroblastoma cell lines (2003) (153)
Linkage disequilibrium and association of MAPT H1 in Parkinson disease. (2004) (152)
The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients (2005) (151)
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. (2003) (150)
LRRK2 mutations in Parkinson disease (2005) (148)
LRRK2 and Parkinson disease. (2010) (145)
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease (2008) (137)
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. (2001) (137)
Parkin variants in North American Parkinson's disease: Cases and controls (2003) (136)
Large-scale replication and heterogeneity in Parkinson disease genetic loci (2012) (133)
Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease. (1999) (133)
Low frequency of α‐synuclein mutations in familial Parkinson's disease (1998) (132)
Expanding the clinical phenotype of SNCA duplication carriers (2009) (127)
α-Synuclein and Parkinson disease susceptibility (2007) (125)
Identification of a novel gene linked to parkin via a bi-directional promoter. (2003) (124)
A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease (2007) (124)
Widespread alterations of alpha-synuclein in multiple system atrophy. (1999) (123)
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries (2006) (122)
Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N. (2015) (120)
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease (2010) (119)
In vivo silencing of alpha-synuclein using naked siRNA (2008) (118)
Profile of families with parkinsonism‐predominant spinocerebellar ataxia type 2 (SCA2) (2004) (116)
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. (2001) (115)
Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism (2016) (114)
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease (2010) (113)
Functional association of the parkin gene promoter with idiopathic Parkinson's disease. (2002) (112)
Sequencing of the α-Synuclein Gene in a Large Series of Cases of Familial Parkinson's Disease Fails to Reveal any Further Mutations (1998) (110)
Dopamine turnover increases in asymptomatic LRRK2 mutations carriers (2010) (107)
LRRK2: a common pathway for parkinsonism, pathogenesis and prevention? (2006) (105)
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (2012) (105)
Left ventricular remodelling and brain natriuretic peptide after first myocardial infarction (2001) (103)
alpha-Synuclein promoter confers susceptibility to Parkinson's disease. (2004) (99)
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. (2006) (98)
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population (2006) (96)
DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function (2004) (93)
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. (2009) (93)
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease (2011) (92)
Disease penetrance of late-onset parkinsonism: a meta-analysis. (2014) (89)
Pallidonigral TDP-43 pathology in Perry syndrome. (2009) (89)
Identification of potential protein interactors of Lrrk2. (2007) (89)
LRRK2 R1441G in Spanish patients with Parkinson's disease (2005) (87)
SCA2 may present as levodopa‐responsive parkinsonism (2003) (87)
ARE PARKINSON DISEASE PATIENTS PROTECTED FROM SOME BUT NOT ALL CANCERS? (2008) (86)
Sensitization of Neuronal Cells to Oxidative Stress with Mutated Human α‐Synuclein (2000) (85)
LRRK2 phosphorylates novel tau epitopes and promotes tauopathy (2013) (82)
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22 (1997) (82)
MAPK‐pathway activity, Lrrk2 G2019S, and Parkinson's disease (2007) (81)
α‐synuclein genetic variability: A biomarker for dementia in Parkinson disease (2016) (80)
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease (1999) (79)
Parkinson’s disease: a rethink of rodent models (2006) (77)
LINGO1 rs9652490 is associated with essential tremor and Parkinson disease. (2010) (74)
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. (2007) (74)
Disease modification and biomarker development in Parkinson disease (2020) (74)
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease (2011) (74)
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. (2017) (74)
Genetics of restless legs syndrome. (2006) (74)
Change in ST segment elevation 60 minutes after thrombolytic initiation predicts clinical outcome as accurately as later electrocardiographic changes (1997) (73)
Analysis of LRRK2 functional domains in nondominant Parkinson disease (2005) (73)
Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians (2002) (73)
Multiple alpha‐synuclein gene polymorphisms are associated with Parkinson’s disease in a Norwegian population (2008) (73)
alpha-Synuclein and Parkinson disease susceptibility. (2007) (72)
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. (2005) (70)
Genetic variation of Omi/HtrA2 and Parkinson's disease. (2008) (70)
SCA-2 presenting as parkinsonism in an Alberta family (2002) (69)
LRRK2 mutations are a common cause of Parkinson's disease in Spain (2006) (68)
The Tau H1 Haplotype is associated with Parkinson's disease in the Norwegian population (2002) (67)
MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy (2011) (67)
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic (2003) (67)
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. (2008) (64)
Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells. (2001) (64)
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 (2008) (64)
Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease. (2010) (63)
Genomewide association, Parkinson disease, and PARK10. (2006) (63)
Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease (2018) (63)
Familial genes in sporadic disease: Common variants of α-synuclein gene associate with Parkinson's disease (2007) (61)
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism (2018) (60)
Characterization of DCTN1 genetic variability in neurodegeneration (2009) (59)
α-Synuclein Gene May Interact with Environmental Factors in Increasing Risk of Parkinson’s Disease (2010) (59)
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions (2007) (57)
It's a double knock‐out! The quaking mouse is a spontaneous deletion of parkin and parkin co‐regulated gene (PACRG) (2004) (57)
Morning serum cortisol concentrations after 2 mg inhaled beclomethasone dipropionate in normal subjects: effect of a 750 ml spacing device. (1990) (57)
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (2005) (57)
Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain. (2007) (56)
Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2 (2006) (56)
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes (2001) (55)
Case‐control study of the extended tau gene haplotype in Parkinson's disease (2001) (55)
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism (2003) (54)
LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies. (2008) (54)
Association of the MAPT locus with Parkinson’s disease (2010) (53)
Simvastatin in non-insulin-dependent diabetes mellitus: effect on serum lipids, lipoproteins and haemostatic measures. (1994) (52)
Phenotypic associations of tau and ApoE in Parkinson's disease (2007) (51)
Reply to: SNCA variants are associated with increased risk of multiple system atrophy (2010) (51)
N-myc Regulates Parkin Expression* (2004) (50)
The genetics of disorders with synuclein pathology and parkinsonism. (1999) (50)
An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology (2012) (49)
Coronary artery disease is associated with increased lipoprotein(a) concentrations independent of the size of circulating apolipoprotein(a) isoforms. (1994) (48)
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. (2017) (48)
Parkinsonism, FXTAS, and FMR1 premutations (2005) (47)
LRRK2 mutations and Parkinsonism (2005) (47)
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges (2019) (47)
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). (1998) (47)
Glucocerebrosidase mutations in diffuse Lewy body disease. (2011) (46)
Case‐control study of debrisoquine 4‐hydroxylase, n‐acetyltransferase 2, and apolipoprotein e gene polymorphisms in Parkinson's disease (2000) (46)
Interaction of α‐synuclein and tau genotypes in Parkinson's disease (2005) (46)
FGF20 and Parkinson's disease: No evidence of association or pathogenicity via α‐synuclein expression (2009) (45)
Case‐Control study of dopamine transporter‐1, monoamine oxidase‐B, and catechol‐O‐methyl transferase polymorphisms in Parkinson's disease (2002) (45)
Elucidating the genetics and pathology of Perry syndrome (2010) (45)
Common variants in PARK loci and related genes and Parkinson's disease (2011) (44)
A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease (2009) (44)
Glucosidase-beta variations and Lewy body disorders. (2009) (43)
PINK1 mutations and parkinsonism (2008) (43)
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease (2007) (43)
PINK1 mutation heterozygosity and the risk of Parkinson’s disease (2006) (43)
Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease. (2010) (43)
The ups and downs of α‐synuclein mRNA expression (2007) (43)
LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance (2014) (42)
LRRK2 exonic variants and risk of multiple system atrophy (2014) (42)
Reduced serum lipoprotein(a) levels in patients with primary biliary cirrhosis. (1994) (41)
The effect of tau genotype on clinical features in FTDP-17. (2005) (41)
A Double Blind Study of the Effect of Acipimox on Serum Lipids, Blood Glucose Control and Insulin Action in Non‐obese Patients with Type 2 Diabetes Mellitus (1992) (40)
Evaluation of gastric emptying in familial and sporadic Parkinson disease. (2009) (40)
&agr;-Synuclein, pesticides, and Parkinson disease: A case–control studySYMBOL (2008) (40)
Pathophysiology, pleotrophy and paradigm shifts: genetic lessons from Parkinson's disease (2005) (40)
A Case of Parkinson's Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin (2018) (39)
Identification and characterization of the human parkin gene promoter (2001) (39)
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease (2004) (39)
A comparison of measurements of lean body mass derived by bioelectrical impedance, skinfold thickness and total body potassium. A study in obese and non-obese normal subjects. (1991) (39)
Sensitization of neuronal cells to oxidative stress with mutated human alpha-synuclein. (2000) (39)
ATP13A2 variability in Parkinson disease (2009) (39)
Clinical, 18F‐dopa PET, and genetic analysis of an ethnic Chinese kindred with early‐onset parkinsonism and parkin gene mutations (2002) (39)
Does α-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson's disease? (2014) (39)
First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation. (2012) (38)
Lrrk2 R1441 substitution and progressive supranuclear palsy (2006) (37)
Collaborative Analysis of (cid:1) -Synuclein Gene Promoter Variability and Parkinson Disease (2006) (37)
SNCA, MAPT, and GSK3B in Parkinson disease: a gene–gene interaction study (2011) (37)
LRRK2 mutations are not common in Alzheimer's disease (2005) (36)
Linkage exclusion in French families with probable Parkinson's disease (2000) (36)
Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. (2009) (36)
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease (2005) (36)
A Novel DCTN1 mutation with late‐onset parkinsonism and frontotemporal atrophy (2014) (35)
Lower cardiac mortality in smokers following thrombolysis for acute myocardial infarction may be related to more effective fibrinolysis. (1999) (35)
Mutant COQ2 in multiple-system atrophy. (2014) (35)
Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases (2007) (35)
Reported mutations in GIGYF2 are not a common cause of Parkinson's disease (2009) (35)
Establishing diagnostic criteria for Perry syndrome (2017) (35)
Complex interactions in Parkinson's disease: A two‐phased approach (2003) (34)
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants (2014) (34)
Impact of first myocardial infarction on self-perceived health status. (2001) (34)
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy (2019) (33)
Patients undergoing coronary artery bypass graft surgery are at high risk of impaired glucose tolerance and diabetes mellitus during the first postoperative year. (1995) (33)
Relation between insulinemia, body mass index, and lipoprotein composition in healthy, nondiabetic men and women. (1992) (32)
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation (2007) (32)
A genetic risk factor for periodic limb movements in sleep. (2008) (32)
The ups and downs of alpha-synuclein mRNA expression. (2007) (32)
Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus? (2009) (32)
Parkinson‐related genetics in patients treated with deep brain stimulation (2011) (32)
Clinical heterogeneity of the LRRK2 G2019S mutation. (2006) (32)
PARK11 is not linked with Parkinson's disease in European families (2005) (31)
Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson's disease. (2017) (30)
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease (2011) (30)
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. (2005) (30)
Fine-mapping and candidate gene investigation within the PARK10 locus (2009) (30)
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy (2017) (29)
Susceptibility genes for restless legs syndrome are not associated with Parkinson disease (2008) (29)
Patient-related outcomes five years after coronary artery bypass graft surgery. (1999) (29)
Genotype–phenotype correlates in Taiwanese patients with early‐onset recessive parkinsonism (2009) (29)
Clinical and pathologic features of families with LRRK2-associated Parkinson's disease. (2006) (29)
The Gut–Brain Axis and Its Relation to Parkinson’s Disease: A Review (2022) (29)
ELAVL4, PARK10, and the Celts (2007) (29)
Acipimox increases glucose disposal in normal man independent of changes in plasma nonesterified fatty acid concentration and whole-body lipid oxidation rate. (1993) (29)
Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation (2003) (29)
An independent replication of PARK16 in Asian samples (2010) (28)
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy (2020) (28)
Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study. (2002) (28)
Genetics of Parkinson's disease. (1997) (28)
Interaction of alpha-synuclein and tau genotypes in Parkinson's disease. (2005) (27)
A family with parkinsonism, essential tremor, restless legs syndrome, and depression (2011) (27)
Quantitative PCR-based screening of α-synuclein multiplication in multiple system atrophy (2007) (27)
DCTN1 p.K56R in progressive supranuclear palsy. (2016) (27)
Autonomic failures in Perry syndrome with DCTN1 mutation. (2010) (27)
Rett Syndrome : An Overlooked Diagnosis in Women with Stereotypic Hand Movements , Psychomotor Retardation , Parkinsonism , and Dystonia ? (2007) (27)
The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21 (1994) (27)
Heterodimerization of Lrrk1–Lrrk2: Implications for LRRK2-associated Parkinson disease (2010) (27)
MEIS1 p.R272H IN FAMILIAL RESTLESS LEGS SYNDROME (2009) (26)
Lack of mutations in DJ‐1 in a cohort of Taiwanese ethnic Chinese with early‐onset parkinsonism (2004) (26)
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy (2016) (26)
Lrrk2 mutations in South America: A study of Chilean Parkinson's disease (2007) (25)
A kindred with Parkinson’s disease not showing genetic linkage to established loci (2000) (25)
Phenotypic commonalities in familial and sporadic Parkinson disease. (2006) (25)
Sporadic SCA8 mutation resembling corticobasal degeneration. (2005) (25)
α-Synuclein missense and multiplication mutations in autosomal dominant Parkinson’s disease (2004) (25)
Pathophysiology, pleiotrophy and paradigm shifts: genetic lessons from Parkinson's disease. (2005) (25)
Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor. (2010) (24)
No pathogenic mutations in the β-synuclein gene in Parkinson's disease (1999) (24)
Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia (2013) (23)
Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease (2010) (23)
Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway (2007) (23)
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa (2010) (23)
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease (2015) (23)
A Swedish family with de novo α -synuclein A53T mutation: Evidence for early cortical dysfunction (2009) (23)
Parkinson's genetics: molecular insights for the new millennium. (2002) (22)
GCH1 in early‐onset Parkinson's disease (2009) (22)
Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy. (2007) (22)
A limited role for DJ1 in Parkinson disease susceptibility (2004) (22)
LRRK2 and Parkinson’s disease in Norway (2007) (21)
No pathogenic mutations in the persyn gene in Parkinson's disease (1999) (21)
Alpha‐synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population (2009) (21)
Acute metabolic and hormonal responses to the inhibition of lipolysis in non-obese patients with non-insulin-dependent (type 2) diabetes mellitus: effects of acipimox. (1992) (21)
Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome (1997) (21)
Beta-synuclein gene variants and Parkinson's disease: A preliminary case-control study (2007) (21)
Genetic Analysis of Synphilin-1 in Familial Parkinson's Disease (2001) (21)
Case‐control study of estrogen receptor gene polymorphisms in Parkinson's disease (2002) (20)
Serum Lp(a) lipoprotein concentration is not associated with clinical and angiographic outcome five years after coronary artery bypass graft surgery. (1997) (20)
Conjugal parkinsonism - Clinical, pathology and genetic study. No evidence of person-to-person transmission. (2016) (20)
Clinical Findings in a Large Family With a Parkin Ex3Δ40 Mutation (2004) (20)
Parkin is not regulated by the unfolded protein response in human neuroblastoma cells (2003) (20)
SETD1B-associated neurodevelopmental disorder (2020) (20)
Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome? (2000) (20)
Phactr2 and Parkinson's disease (2009) (20)
The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. (2002) (20)
Pathology of PD in monozygotic twins with a 20-year discordance interval (2001) (20)
Assessing an Interactive Online Tool to Support Parents’ Genomic Testing Decisions (2018) (20)
Genetic association study of synphilin-1 in idiopathic Parkinson's disease (2008) (19)
Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats. (2002) (19)
Parkinsonism in GTP cyclohydrolase 1 mutation carriers. (2015) (19)
Clinical characteristics of Parkinson’s disease among Jewish Ethnic groups in Israel (2008) (19)
Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations (2004) (19)
Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome. (2009) (19)
Assessing the Impact of Blood Sample Type on the Estimated Prevalence of Impaired Glucose Tolerance and Diabetes Mellitus in Epidemiological Surveys (1995) (18)
Genetic association studies in Alzheimer's disease research: challenges and opportunities (2004) (18)
Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project. (2018) (18)
Effect of acute inhibition of lipolysis on operation of the glucose-fatty acid cycle in hepatic cirrhosis. (1992) (17)
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers (2019) (17)
Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa (2010) (17)
Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors (2020) (17)
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. (2017) (16)
Genealogical studies in LRRK2-associated Parkinson's disease in central Norway. (2010) (16)
Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred (2007) (15)
EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population. (2014) (15)
Parkinson's genetics: An embarrassment of riches (2002) (15)
The association of different measures of insulinaemia with vascular risk factors in healthy normoglycaemic normotensive non-obese men and women. (1991) (15)
Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease (2003) (15)
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease (2021) (15)
Outcome after coronary artery surgery in women and men in the north of England. (1997) (15)
Parkin-proven disease (2003) (15)
A multi-incident, Old-Order Amish family with PD (2002) (15)
Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America. (2011) (15)
STX6 rs1411478 is not associated with increased risk of Parkinson's disease. (2013) (15)
Whole Exome Sequencing of an Exceptional Longevity Cohort. (2019) (15)
Identification of the Human Ubiquitin Specific Protease 31 (USP31) Gene: Structure, Sequence and Expression Analysis (2004) (14)
Multiplication of the α-synuclein gene is not a common disease mechanism in Lewy body disease (2007) (14)
A simple, sensitive technique for classification of apolipoprotein(a) isoforms by sodium dodecyl sulphate-polyacrylamide gel electrophoresis. (1992) (13)
Genetic variants of α‐synuclein are not associated with essential tremor (2011) (13)
A family with a tau P301L mutation presenting with parkinsonism. (2002) (13)
LRRK2-Related Parkinson Disease (2014) (13)
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2 p 14 and 16 q 12 . 1 (2017) (13)
Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease. (2008) (12)
Clinical findings in a large family with a parkin ex3delta40 mutation. (2004) (12)
Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect. (1993) (12)
LRRK2 variation and Parkinson's disease in African Americans (2010) (12)
No pathogenic mutations in the beta-synuclein gene in Parkinson's disease. (1999) (12)
Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease. (2004) (12)
PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups. (2012) (12)
Parkinson disease: Parkinson disease—moving beyond association (2010) (11)
Aprataxin (APTX) gene mutations resembling multiple system atrophy. (2007) (11)
DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease (2009) (11)
Parkinson's disease, genetic variability and the Faroe Islands. (2015) (11)
Calbindin‐1 association and Parkinson’s disease (2010) (11)
Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease. (2003) (11)
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy (2019) (11)
GRN 3′UTR+78 C>T is not associated with risk for Parkinson’s disease (2009) (11)
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 (2004) (11)
High apolipoprotein AI concentrations are associated with lower mortality and myocardial infarction five years after coronary artery bypass graft surgery (1999) (10)
Effects of catecholamines on ketogenesis in isolated hepatocytes from fed or 48h-starved rats (1982) (10)
Doubts about TMEM230 as a gene for parkinsonism (2019) (10)
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder (2018) (10)
Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis (2007) (10)
Neuropathological findings in PINK1-associated Parkinson's disease. (2020) (10)
Association between impaired glucose tolerance and circulating concentration of Lp(a) lipoprotein in relation to coronary heart disease. (1993) (10)
Association of pyridoxal kinase and Parkinson disease (2010) (10)
Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease. (2004) (9)
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study (2017) (9)
Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 (2011) (9)
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease. (2021) (9)
Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism (2005) (9)
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease (2007) (9)
Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease. (2007) (9)
LRRK2 gene and tremor-dominant parkinsonism. (2006) (8)
The commercial genetic testing landscape for Parkinson's disease. (2021) (8)
Novel LRRK2 mutations in Parkinsonism. (2015) (8)
Analysis of-Synuclein Gene Promoter Variability and Parkinson Disease (2006) (8)
Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study (2012) (7)
Identification of a Novel Gene Linked to Parkin via a Bidirectional Promoter (2003) (7)
P2.206 EIF4G1 mutations in familial parkinsonism (2009) (7)
Death‐associated protein kinase 1 variation and Parkinson’s disease (2011) (7)
Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease. (2009) (7)
LRRK 2 and Parkinson Disease (2010) (6)
Lrrk2 in the limelight! (2007) (6)
ANTIBODIES TO NON-AMYLOID COMPONENT OF PLAQUES (NACP) SPECIFICALLY LABEL LEWY BODIES AND LEWY NEURITES, BUT NOT OTHER INCLUSIONS IN NEURODEGENERATIVE DISEASES (1998) (6)
Atypical Parkinsonism and SCA8. (2006) (6)
Acute effects of nebulised epoprostenol in pulmonary hypertension due to systemic sclerosis. (1999) (6)
Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism. (1998) (5)
Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin? (2003) (5)
Patient‐control association study of the Leucine‐Rich repeat kinase 2 (LRRK2) gene in South African Parkinson's disease patients (2013) (5)
Sunday, 26 August 2012 (2012) (5)
DCTN1 mutations in families with parkinsonism, depression, weight loss and central hypoventilation: Perry syndrome (2008) (4)
Identifying genetic factors in Parkinson disease. (2002) (4)
α-Synuclein, pesticides, and Parkinson disease (2008) (4)
Premutation alleles and fragile X-associated tremor/ataxia syndrome. (2005) (4)
Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease (2021) (4)
Genome-wide association studies of LRRK2 modifiers of Parkinson's disease (2020) (4)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease (2022) (4)
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study (2022) (4)
Risk Factor Control Five Years after Coronary Bypass Grafting (1996) (3)
The ancestry of LRRK2 Gly2019Ser parkinsonism – Authors' reply (2008) (3)
Pathogenic Lrrk 2 substitutions and Amyotrophic lateral sclerosis (2007) (3)
Clinical Heterogeneity of the LRRK 2 G 2019 S Mutation (2006) (3)
Erratum: VPS35 mutations in Parkinson disease (American Journal of Human Genetics (2011) 89 (162-167)) (2011) (3)
Conjugal parkinsonism is coincidental. (2016) (3)
Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci. (2003) (3)
Neurobehavioral characterization of adult-onset Alexander disease: A family study. (2017) (3)
Common variants in Parkinson's disease (2007) (3)
Parkinson disease risk variants in East Asian populations (2020) (3)
Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy (2009) (3)
LRRK2 knockout mice display alterations in emotional and motor co-ordination behaviours (2012) (2)
Further evidence for a chromosome 4p haplotype segregating with Parkinson's disease in an independent Italian kindred. (1999) (2)
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder. (2017) (2)
Serum insulin, haemostatic function and cardiovascular risk factors in normoglycaemic men and women (1993) (2)
Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era (2021) (2)
Hereditary Parkinson's Disease of Unknown Genetic Cause in Two Families from Southern Sweden (2010) (2)
The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited (2022) (2)
Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism (2005) (2)
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport (2019) (2)
GCH1 expression in human cerebellum from healthy individuals is not gender dependant (2009) (2)
P3-159 MAPT H1 subhaplotyping in european PD association samples implicates tau splicing in early-onset parkinson’s disease susceptibility (2006) (1)
Dopamine β -hydroxylase -1021C>T association and Parkinson’s disease (2008) (1)
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort (2023) (1)
Enhancement of substrate-induced deactivation of penicillinase by cross-linking with dimethyl suberimidate. (1980) (1)
Tau kinases and Parkinson's disease: Guilt by association? (2005) (1)
Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy (2018) (1)
Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (I14.001) (2016) (1)
Erratum to: Reply: UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population. (2021) (1)
The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit. (2022) (1)
α-Synuclein Repeat Polymorphisms and Pesticide Exposure in Parkinsonʼs Disease (2009) (1)
Erratum: Complex relationship between Parkin mutations and Parkinson disease (American Journal of Medical Genetics-Neuropsychocetric (2002) 114-(584-591)) (2002) (1)
Assess the documentation of cognitive tests and biomarkers in electronic health records via natural language processing for Alzheimer's disease and related dementias (2022) (1)
Chapter 7 - LRRK2 and Parkinson's Disease (2010) (1)
Proposed collaboration : Genetic risk and progression to dementia in Parkinson's disease (2016) (1)
LRRK2 (Leucine-Rich Repeat Kinase 2) Gene on PARK8 Locus in Families with Parkinsonism (2008) (1)
Assessment of commercial monoclonal and polyclonal antibodies to human serum lipoprotein LP(A) phenotypes (1990) (1)
P2.039 High frequency of genetically-determined Parkinson's disease in patients referred to deep brain stimulation (2009) (0)
Double-bli placebo-controlled study of the effects of simvastatin on serum lipids and lipoproteins in non-insulin-dependent diabetes mellitus (NIDDM). (1993) (0)
Improvement in blood lipid profile following coronary artery bypass graft (CABG) surgery (1991) (0)
GBA in Parkinson's disease: variant detection and pathogenicity scoring matters (2023) (0)
Reply: UQCRC1 variants in Parkinson's disease: a large cohort study in the Chinese mainland. (2021) (0)
2.116 Genetic characterization of ATP13A2 in Parkinson's disease (2007) (0)
Title Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy : A case control study (2012) (0)
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease (2022) (0)
Mutations du gène EIF4G 1 (Eukaryotic translation initiation factor 4-gamma) et maladie de Parkinson (2012) (0)
Lipoprotein (a) [Lp(a)] levels and primary biliary cirrhosis (PBC) (1993) (0)
Identiﬁcation of a Novel Risk Locus for Progressive Supranuclear Palsy by a Pooled Genomewide Scan of 500,288 Single-Nucleotide Polymorphisms (2007) (0)
Heterozygous PINK1 p.G411S mutation increases risk for Parkinson's disease (PD) (2016) (0)
Pesticide Exposures from Agricultural Applications in California and Gene-Environment Interactions in Parkinson's Disease (2009) (0)
Severe coronary artery disease (CAD) and lipoprotein(a) concentration: a relationship which is independent of the apoprotein(a) isoform expressed (1993) (0)
TMEM230 is not a gene for Parkinson’s disease (2017) (0)
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers (2023) (0)
What training and education is required to implement cascade testing for FH (2007) (0)
2.011 Familial genes in sporadic Parkinson's disease (2007) (0)
Interaction of mitochondrial polygenic score and environmental factors in LRRK2 p.Gly2019Ser parkinsonism (2023) (0)
Are all different measures of insulinaemia similarly associated with vascular risk factors in healthy non-obese individuals without hypertension or impaired glucose tolerance? (1990) (0)
SerumLp(a)lipoprotein concentration isnot associated withclinical andangiographic outcome five yearsafter coronaryarterybypass graft surgery (1997) (0)
the Faroese Parkinson's diseases research program-multifactorial analyses of a complex syndrome : 642 (2016) (0)
LRRK2-Associated Parkinsonism (2007) (0)
Genome-wide determinants of mortality and clinical progression in Parkinson's disease (2022) (0)
Reference VPS 35 mutations in Parkinson disease (2017) (0)
Receiver-Operator Characteristics of Early Post-Myocardial Infarction ECGs in Predicting Clinical Outcome (1998) (0)
Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy. (2023) (0)
Identification of novel PD genes by whole-exome sequencing in Italian families (2016) (0)
Short Communication Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis (2007) (0)
2.313 Alcoholism, alpha-synuclein, and Parkinson disease: A case-control study (2007) (0)
EFFECTS OF WILD-TYPE AND G 2019 S MUTANT LRRK 2 ON THE PROGRESSION OF TAU PATHOLOGY (2011) (0)
Table 1. [Summary of Molecular Genetic Testing Used in LRRK2-Related Parkinson Disease]. (2014) (0)
Lp(a) lipoprotein and impaired glucose tolerance: Authors' reply (1994) (0)
2.101 Familial genes in sporadic Parkinson's disease (2007) (0)
Progress Mate for a Pavise a mutation that causes hereditary parkinsonism (2005) (0)
Identifying genetic factors in Parkinson disease [6] (multiple letters) (2002) (0)
Phenotype or genotype for diagnosis of FH (2007) (0)
The genetics and molecular biology of alpha-synuclein. (2008) (0)
Origin of parkin gene mutations in Europe (2001) (0)
Autonomic dysfunction in Parkinson's disease: Results from the Faroese Parkinson's disease cohort (2022) (0)
Table 3. [Selected LRRK2 Allelic Variants]. (2014) (0)
Construction and preliminary characterization of a microdissected human chromosome 21p mini-library (1994) (0)
Familial Variants of Parkinson’s Disease (2002) (0)
Semi-quantitative PCR based screening of α -Synuclein multiplication in multiple system atrophy (2008) (0)
P3.026 Clinico-pathologic comparison of Perry syndrome and distal spinal and bulbar muscular atrophy (2009) (0)
P1-106: LRRK2 as a common link between tauopathies and synucleinopathies (2008) (0)
Neuroepidemiology Neurogenetics P 1176 " Direct " Molecular Diagnosis of Spinal Muscular Atrophy in Moldova Genetic and Clinical Analysis of Spinocerebellar Ataxia Type 8 (sca8) Repeat Expansion in Serbia Clinic-genealogical Features of Hereditary Neuropathies with Pressure Palsies, in Novokuznetsk (2002) (0)
Triplication of Alpha-Synuclein is Causal of Neuropathologically Confirmed Parkinson ’ s Disease , Diffuse Lewy Body Disease , and Multiple System Atrophy in a Single Kindred (2003) (0)
A Unique Case of Cortical Myoclonus Sensitive to Visual Stimuli in the Peripersonal Space (2009) (0)
Table 2. [Number of Individuals with LRRK2-Related PD with Distinct Pathogenic Findings]. (2014) (0)
Authors' reply (1994) (0)
Very early ST segment changes following thrombolysis are more predictive of 30-day clinical outcome in anterior than inferior myocardial infarction (1996) (0)
LRRK2 and Parkinsons disease in Norway (2007) (0)
Parental allelic variation at COL6A1 and congenital heart defects in trisomy 21 (1994) (0)
Genetic Reports Abstracts Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease (2011) (0)
NEUROGENETICS: A GUIDE FOR CLINICIANS. 2012. Edited by Nicholas W. Wood. Published by Cambridge University Press. 241 pages. C$70.00 approx. (2013) (0)
Acknowledgement to referees 2003 (2004) (0)
Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy (2019) (0)
leukocyte Mapk activity associated with the Lrrk2 G2019s mutation and Parkinson's disease : p321 (2006) (0)
Polychlorinated Biphenyl (PCB) Exposure, CYP2B6 Variability and Parkinson’s Disease Risk in the Faroe Islands (P6.382) (2016) (0)

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