M
Matthew J. Farrer
Researcher at University of Florida
Publications - 469
Citations - 43560
Matthew J. Farrer is an academic researcher from University of Florida. The author has contributed to research in topics: Parkinsonism & Parkinson's disease. The author has an hindex of 91, co-authored 450 publications receiving 39870 citations. Previous affiliations of Matthew J. Farrer include Mayo Clinic & University of Toronto.
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Journal ArticleDOI
α-Synuclein Locus Triplication Causes Parkinson's Disease
Andrew B. Singleton,Matthew J. Farrer,Joshua C. Johnson,Amanda Singleton,Stephen Hague,Jennifer M. Kachergus,Mary M. Hulihan,Terhi Peuralinna,Amalia Dutra,Robert L. Nussbaum,Sarah Lincoln,Anthony Crawley,Melissa Hanson,Demetrius M. Maraganore,Charles H. Adler,Mark R. Cookson,Manfred D. Muenter,Melisa J. Baptista,David Miller,J. Blancato,John Hardy,Katrina Gwinn-Hardy +21 more
TL;DR: In this article, the α-synuclein was identified as the major component of Lewy bodies, the pathological hallmark of Parkinson's disease, and of glial cell cytoplasmic inclusions.
Journal ArticleDOI
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Alexander Zimprich,Alexander Zimprich,Saskia Biskup,Petra Leitner,Peter Lichtner,Matthew J. Farrer,Sarah Lincoln,Jennifer M. Kachergus,Mary M. Hulihan,Ryan J. Uitti,Donald B. Calne,A. Jon Stoessl,Ronald F. Pfeiffer,Nadja Patenge,Iria Carballo Carbajal,Peter Vieregge,Friedrich Asmus,Bertram Müller-Myhsok,Dennis W. Dickson,Thomas Meitinger,Tim M. Strom,Zbigniew K. Wszolek,Thomas Gasser +22 more
TL;DR: High-resolution recombination mapping and candidate gene sequencing in 46 families found six disease-segregating mutations in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase 2), which may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism.
Journal ArticleDOI
α-synuclein locus duplication as a cause of familial Parkinson's disease
Marie-Christine Chartier-Harlin,Jennifer M. Kachergus,Christophe Roumier,Vincent Mouroux,Xavier Douay,Sarah Lincoln,Clotilde Levecque,Lydie Larvor,Joris Andrieux,Mary M. Hulihan,Nawal Waucquier,Luc Defebvre,Philippe Amouyel,Matthew J. Farrer,Alain Destée +14 more
TL;DR: The clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent, and suggest a direct relation between S NCA gene dosage and disease progression.
Journal ArticleDOI
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Ellen Sidransky,Mike A. Nalls,Jan O. Aasly,Judith Aharon-Peretz,Grazia Annesi,Egberto Reis Barbosa,Anat Bar-Shira,Daniela Berg,Jose Bras,Jose Bras,Alexis Brice,Alexis Brice,Chiung-Mei Chen,Lorraine N. Clark,Christel Condroyer,Elvira Valeria De Marco,Alexandra Durr,Alexandra Durr,Michael J. Eblan,Stanley Fahn,Matthew J. Farrer,Hon-Chung Fung,Ziv Gan-Or,Thomas Gasser,Ruth Gershoni-Baruch,Ruth Gershoni-Baruch,Nir Giladi,Nir Giladi,Alida Griffith,Tanya Gurevich,Tanya Gurevich,Cristina Januário,Peter Kropp,Anthony E. Lang,Guey Jen Lee-Chen,Suzanne Lesage,Karen Marder,Ignacio F. Mata,Anat Mirelman,Jun Mitsui,Ikuko Mizuta,Giuseppe Nicoletti,Giuseppe Nicoletti,Catarina R. Oliveira,Ruth Ottman,Avi Orr-Urtreger,Lygia da Veiga Pereira,Aldo Quattrone,Aldo Quattrone,Ekaterina Rogaeva,Arndt Rolfs,Hanna Rosenbaum,Roberto Rozenberg,Ali Samii,Ali Samii,Ali Samii,Ted Samaddar,Claudia Schulte,Manu Sharma,Manu Sharma,Andrew B. Singleton,Andrew B. Singleton,Mariana Spitz,Mariana Spitz,Eng-King Tan,Eng-King Tan,Nahid Tayebi,Tatsushi Toda,André R. Troiano,Shoji Tsuji,Matthias Wittstock,Tyra G. Wolfsberg,Yih-Ru Wu,Cyrus P. Zabetian,Yi Zhao,Shira G. Ziegler +75 more
TL;DR: Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
Journal ArticleDOI
VPS35 Mutations in Parkinson Disease
Carles Vilariño-Güell,Christian Wider,Owen A. Ross,Justus C. Dachsel,Jennifer M. Kachergus,Sarah Lincoln,Alexandra I. Soto-Ortolaza,Stephanie A. Cobb,Greggory J. Wilhoite,Justin A. Bacon,Behrouz Bahareh Behrouz,Heather L. Melrose,Emna Hentati,Andreas Puschmann,Andreas Puschmann,Daniel M. Evans,Elizabeth Conibear,Wyeth W. Wasserman,Jan O. Aasly,Pierre R. Burkhard,Ruth Djaldetti,Joseph Ghika,Fayçal Hentati,Anna Krygowska-Wajs,Timothy Lynch,Timothy Lynch,Eldad Melamed,Alex Rajput,Ali H. Rajput,Alessandra Solida,Ruey-Meei Wu,Ryan J. Uitti,Zbigniew K. Wszolek,François Vingerhoets,Matthew J. Farrer,Matthew J. Farrer +35 more
TL;DR: This study implicates disruption of VPS35 and retromer-mediated trans-membrane protein sorting, rescue, and recycling in the neurodegenerative process leading to PD.