J. Vaughan

发表

Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study.

M. Farrer, S. Lincoln, D. Brooks, 2002, Brain : a journal of neurology.

Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

J. Powell, P. Leigh, N. Wood, 1999, Neuroscience Letters.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

M. Farrer, Y. Agid, P. Pollak, 2001, American journal of human genetics.

Detailed genotyping demonstrates association between the slow acetylator genotype for N‐Acetyltransferase 2 (NAT2) and familial parkinson's disease

C. Marsden, P. Holmans, N. Wood, 2000, Movement disorders : official journal of the Movement Disorder Society.

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

M. Farrer, S. Lincoln, J. Hardy, 1999, Neuroreport.

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.

C. Marsden, Y. Agid, A. Durr, 1998, Annals of neurology.

Genetic complexity and Parkinson's disease.

Y. Agid, B. Müller-Myhsok, A. Dürr, 1997, Science.

The autoimmune diseases.

J. Vaughan, P. Kohler, 1982, JAMA.

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

H. Houlden, J. Rankin, M. Sweeney, 2015, Journal of the peripheral nervous system.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

Nicholas W. Wood, Matthew J. Farrer, Vincenzo Bonifati, 1999, Neuroscience Letters.

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Y. Agid, R. Marconi, B. Oostra, 1999, Human molecular genetics.

Association between early-onset Parkinson's disease and mutations in the parkin gene.

Bonifati, N W Wood, A Dürr, 2000, The New England journal of medicine.

Association of slow acetylator genotype for N-acetyltransferase 2 with familial Parkinson's disease

C. Marsden, P. Holmans, N. Wood, 1997, The Lancet.

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

A. Singleton, N. Quinn, D. Brooks, 2005, Brain : a journal of neurology.

The α‐synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

C. Marsden, Y. Agid, A. Durr, 1998 .

Sequencing of the α-Synuclein Gene in a Large Series of Cases of Familial Parkinson's Disease Fails to Reveal any Further Mutations

C. Marsden, M. Farrer, S. Lincoln, 1998 .

Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease

Miguel Ángel Martínez, M. Farrer, M. Breteler, 2004, Journal of Medical Genetics.

Genetics of Parkinsonism: a review.

N. Wood, M. Davis, J. Vaughan, 2001, Annals of human genetics.

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

A. Singleton, M. Farrer, J. Hardy, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Parkinson's disease is not associated with the combined α‐synuclein/apolipoprotein E susceptibility genotype

C. Morris, N. Quinn, R. de Silva, 2001, Annals of neurology.

Atypical Parkinsonism‐Dystonia Syndrome Caused by a Novel DJ1 Mutation

J. Hardy, R. Guerreiro, S. Schneider, 2014, Movement disorders clinical practice.

No pathogenic mutations in the synphilin-1 gene in Parkinson's disease

A. Lees, R. Silva, N. Wood, 2001, Neuroscience Letters.

Genetics of Parkinsonism: a review

N. Wood, J. Vaughan, M. Davis, 2001, Annals of human genetics.

Multiple system atrophy/progressive supranuclear palsy: α-Synuclein, synphilin, tau, and APOE

P. Lantos, N. Cairns, D. Burn, 2000, Neurology.

PARK11 is not linked with Parkinson's disease in European families

M. Farrer, B. Müller-Myhsok, A. Dürr, 2005, European Journal of Human Genetics.

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).

C. Marsden, M. Farrer, S. Lincoln, 1998, Human molecular genetics.