J
J. P. Pearson
Researcher at Cardiff University
Publications - 6
Citations - 4515
J. P. Pearson is an academic researcher from Cardiff University. The author has contributed to research in topics: Genome-wide association study & Haplotype. The author has an hindex of 5, co-authored 5 publications receiving 3982 citations.
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Journal ArticleDOI
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Alan E. Renton,Elisa Majounie,Adrian James Waite,Javier Simón-Sánchez,Javier Simón-Sánchez,Sara Rollinson,J. Raphael Gibbs,J. Raphael Gibbs,Jennifer C. Schymick,Hannu Laaksovirta,John C. van Swieten,John C. van Swieten,Liisa Myllykangas,Hannu Kalimo,Anders Paetau,Yevgeniya Abramzon,Anne M. Remes,Alice Kaganovich,Sonja W. Scholz,Sonja W. Scholz,Sonja W. Scholz,Jamie Duckworth,Jinhui Ding,Daniel W. Harmer,Dena G. Hernandez,Dena G. Hernandez,Janel O. Johnson,Janel O. Johnson,Kin Y. Mok,Mina Ryten,Danyah Trabzuni,Rita Guerreiro,Richard W. Orrell,James Neal,Alexandra Murray,J. P. Pearson,Iris E. Jansen,David Sondervan,Harro Seelaar,Derek J. Blake,Kate Young,Nicola Halliwell,Janis Bennion Callister,Greg Toulson,Anna Richardson,Alexander Gerhard,Julie S. Snowden,David M. A. Mann,David Neary,Mike A. Nalls,Terhi Peuralinna,Lilja Jansson,Veli-Matti Isoviita,Anna-Lotta Kaivorinne,Maarit Hölttä-Vuori,Elina Ikonen,Raimo Sulkava,Michael Benatar,Joanne Wuu,Adriano Chiò,Gabriella Restagno,Giuseppe Borghero,Mario Sabatelli,David Heckerman,Ekaterina Rogaeva,Lorne Zinman,Jeffrey D. Rothstein,Michael Sendtner,Carsten Drepper,Evan E. Eichler,Can Alkan,Ziedulla Abdullaev,Svetlana Pack,Amalia Dutra,Evgenia Pak,John Hardy,Andrew B. Singleton,Nigel Williams,Peter Heutink,Stuart Pickering-Brown,Huw R. Morris,Huw R. Morris,Huw R. Morris,Pentti J. Tienari,Bryan J. Traynor,Bryan J. Traynor +85 more
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
Journal ArticleDOI
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease
Vincent Plagnol,Mike A. Nalls,Jose Bras,Dena G. Hernandez,Dena G. Hernandez,M. Sharma,Una-Marie Sheerin,Mohamad Saad,Javier Simón-Sánchez,Claudia Schulte,Suzanne Lesage,Suzanne Lesage,Sigurlaug Sveinbjörnsdóttir,Philippe Amouyel,Philippe Amouyel,S. Arepalli,Roger A. Barker,C. Bellinguez,Yoav Ben-Shlomo,Henk W. Berendse,Daniela Berg,Kailash P. Bhatia,R. M. A. de Bie,Alessandro Biffi,Alessandro Biffi,B.R. Bloem,Zoltán Bochdanovits,Michael Bonin,Knut Brockmann,J. Brooks,David J. Burn,Gavin Charlesworth,Honglei Chen,Patrick F. Chinnery,Sean Chong,Carl E Clarke,Carl E Clarke,Mark R. Cookson,J. M. Cooper,Jean-Christophe Corvol,Carl Counsell,P. Damier,J. F. Dartigues,Panagiotis Deloukas,Günther Deuschl,David T. Dexter,K.D. van Dijk,Allissa Dillman,F. Durif,Alexandra Durr,Sarah Edkins,Jonathan R. Evans,Thomas Foltynie,Colin Freeman,Jianjun Gao,M. Gardner,J. R. Gibbs,J. R. Gibbs,A. Goate,Emma Gray,Rita Guerreiro,O. Gustafsson,Clare Elizabeth Harris,Garrett Hellenthal,J.J. van Hilten,Albert Hofman,Albert R. Hollenbeck,Janice L. Holton,Michele T.M. Hu,X. Huang,Heiko Huber,Gavin Hudson,Sarah E. Hunt,J. Huttenlocher,Thomas Illig,Palmi V. Jonsson,Cordelia Langford,Andrew J. Lees,Peter Lichtner,Patricia Limousin,Grisel Lopez,Delia Lorenz,Alisdair McNeill,C. Moorby,Matthew Moore,Huw R. Morris,Karen E. Morrison,Karen E. Morrison,Ese E. Mudanohwo,Sean S. O'Sullivan,J. P. Pearson,R. Pearson,Joel S. Perlmutter,H. Petursson,Matti Pirinen,Pierre Pollak,Bart Post,Simon C. Potter,Bernard Ravina,Tamas Revesz,O. Riess,Fernando Rivadeneira,Patrizia Rizzu,Mina Ryten,Stephen Sawcer,Peter Heutink,Nicholas W. Wood +106 more
TL;DR: Using a dataset of post-mortem brain samples assayed for gene expression and methylation, methylation and expression changes associated with PD risk variants in PARK16/1q32, GPNMB/7p15, and STX1B/16p11 loci are identified, suggesting potential molecular mechanisms and candidate genes at these risk loci.
Journal ArticleDOI
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
Chris C. A. Spencer,Vincent Plagnol,Amy Strange,Michelle Gardner,Coro Paisán-Ruiz,Gavin Band,Roger A. Barker,Céline Bellenguez,Kailash P. Bhatia,Hannah Blackburn,Jennie M. Blackwell,Jennie M. Blackwell,Elvira Bramon,Martin A. Brown,Matthew A. Brown,David J. Burn,Juan-Pablo Casas,Juan-Pablo Casas,Patrick F. Chinnery,Carl E Clarke,Aiden Corvin,Nicholas John Craddock,Panos Deloukas,Sarah Edkins,J.M. Evans,Colin Freeman,Emma Gray,John Hardy,Gavin Hudson,Sarah E. Hunt,Janusz Jankowski,Cordelia Langford,Andrew J. Lees,Hugh S. Markus,Christopher G. Mathew,Mark I. McCarthy,Karen E. Morrison,Colin N. A. Palmer,J. P. Pearson,Leena Peltonen,Matti Pirinen,Robert Plomin,Simon C. Potter,Anna Rautanen,Stephen Sawcer,Zhan Su,Richard C. Trembath,Ananth C. Viswanathan,Ananth C. Viswanathan,Nigel W. Williams,Huw R. Morris,Peter Donnelly,Nicholas W. Wood +52 more
TL;DR: A genome-wide association study in 1705 Parkinson's disease UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS, found weak but consistent evidence of association for common variants located in three previously published associated regions.
Journal ArticleDOI
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease
Laura L. Kilarski,J. P. Pearson,Victoria Elizabeth Newsway,Elisa Majounie,M. Duleeka W Knipe,Anjum Misbahuddin,Patrick F. Chinnery,David J. Burn,Carl E Clarke,Marie-Helene Marion,Alistair J. Lewthwaite,Alistair J. Lewthwaite,David Nicholl,David Nicholl,Nicholas W. Wood,Karen E. Morrison,Caroline H. Williams-Gray,Jonathan R. Evans,Stephen Sawcer,Roger A. Barker,M M Wickremaratchi,Yoav Ben-Shlomo,Nigel Williams,Huw R. Morris +23 more
TL;DR: This study screened 136 EOPD probands from a high‐ascertainment regional and community‐based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ‐1), and exon 41 of LRRK2 and shows an increased likelihood of mutations in patients with lower AAO, family history, or parental consanguinity.
Journal ArticleDOI
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
J. P. Pearson,Nigel Williams,Elisa Majounie,Adrian James Waite,Jennifer Stott,Victoria Elizabeth Newsway,Alexandra Murray,Dena G. Hernandez,Rita Guerreiro,Andrew B. Singleton,James Neal,Huw R. Morris,Huw R. Morris,Huw R. Morris +13 more
TL;DR: The clinical phenotype and pathology of a large family with autosomal dominant FTD/ALS with nine affected members originating from Gwent in South Wales, UK is described and a large 4.8-megabase haplotype on chromosome 9p21 is identified, which was shared by all affected family members.