Zobrazeno 1 - 10
of 488
pro vyhledávání: '"Matthew J Farrer"'
Autor:
Mattia Volta, Dayne A Beccano-Kelly, Sarah A Paschall, Stefano Cataldi, Sarah E MacIsaac, Naila Kuhlmann, Chelsie A Kadgien, Igor Tatarnikov, Jesse Fox, Jaskaran Khinda, Emma Mitchell, Sabrina Bergeron, Heather Melrose, Matthew J Farrer, Austen J Milnerwood
Publikováno v:
eLife, Vol 6 (2017)
LRRK2 mutations produce end-stage Parkinson’s disease (PD) with reduced nigrostriatal dopamine, whereas, asymptomatic carriers have increased dopamine turnover and altered brain connectivity. LRRK2 pathophysiology remains unclear, but reduced dopam
Externí odkaz:
https://doaj.org/article/5f108c2a552e4725bf106dfb1e5ec4fe
Autor:
Manuela M. X. Tan, Michael A. Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real, Alejandro Martinez Carrasco, Samir Bekadar, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, Ole A. Andreassen, Mathias Toft, Alexis Elbaz, Fanny Artaud, Alexis Brice, Jean-Christophe Corvol, Jan Aasly, Matthew J. Farrer, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, John Hardy, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Lasse Pihlstrøm, Huw R. Morris
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-15 (2024)
Abstract There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining
Externí odkaz:
https://doaj.org/article/b1dcf9f75c9e4bc4bc4699609e993749
Autor:
Dayne A Beccano-Kelly, Naila eKuhlmann, Igor eTatarnikov, Mattia eVolta, Lise N Munsie, Patrick eChou, Li-Ping eCao, Heather eHan, Lucia eTapia, Matthew J Farrer, Austen J Milnerwood
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 8 (2014)
Mutations in Leucine-Rich Repeat Kinase-2 (LRRK2) result in familial Parkinson’s disease and the G2019S mutation alone accounts for up to 30% in some ethnicities. Despite this, the function of LRRK2 is largely undetermined although evidence suggest
Externí odkaz:
https://doaj.org/article/2f5b7af1c22c4479ae2e7ef5ca1b59ef
Autor:
Mengfei Bu, Jordan Follett, Isaac Deng, Igor Tatarnikov, Shannon Wall, Dylan Guenther, Melissa Maczis, Genevieve Wimsatt, Austen Milnerwood, Mark S. Moehle, Habibeh Khoshbouei, Matthew J. Farrer
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract Dysregulation of dopamine neurotransmission profoundly affects motor, motivation and learning behaviors, and can be observed during the prodromal phase of Parkinson’s disease (PD). However, the mechanism underlying these pathophysiological
Externí odkaz:
https://doaj.org/article/d7d5c549172147a4a35bf5c5e9f93f2c
Autor:
Fumitaka Kawakami, Motoki Imai, Yuki Isaka, Mark R. Cookson, Hiroko Maruyama, Makoto Kubo, Matthew J. Farrer, Makoto Kanzaki, Rei Kawashima, Tatsunori Maekawa, Shun Tamaki, Yoshifumi Kurosaki, Fumiaki Kojima, Kenichi Ohba, Takafumi Ichikawa
Publikováno v:
FEBS Open Bio, Vol 13, Iss 12, Pp 2200-2214 (2023)
Epidemiological studies have shown that abnormalities of glucose metabolism are involved in leucine‐rich repeat kinase 2 (LRRK2)‐associated Parkinson's disease (PD). However, the physiological significance of this association is unclear. In the p
Externí odkaz:
https://doaj.org/article/b45a9cfcdb4646e59fbb5d9ee09970be
Autor:
Christina M Lill, Johannes T Roehr, Matthew B McQueen, Fotini K Kavvoura, Sachin Bagade, Brit-Maren M Schjeide, Leif M Schjeide, Esther Meissner, Ute Zauft, Nicole C Allen, Tian Liu, Marcel Schilling, Kari J Anderson, Gary Beecham, Daniela Berg, Joanna M Biernacka, Alexis Brice, Anita L DeStefano, Chuong B Do, Nicholas Eriksson, Stewart A Factor, Matthew J Farrer, Tatiana Foroud, Thomas Gasser, Taye Hamza, John A Hardy, Peter Heutink, Erin M Hill-Burns, Christine Klein, Jeanne C Latourelle, Demetrius M Maraganore, Eden R Martin, Maria Martinez, Richard H Myers, Michael A Nalls, Nathan Pankratz, Haydeh Payami, Wataru Satake, William K Scott, Manu Sharma, Andrew B Singleton, Kari Stefansson, Tatsushi Toda, Joyce Y Tung, Jeffery Vance, Nick W Wood, Cyrus P Zabetian, andMe Genetic Epidemiology of Parkinson's Disease Consortium, International Parkinson's Disease Genomics Consortium, Parkinson's Disease GWAS Consortium, Wellcome Trust Case Control Consortium 2), Peter Young, Rudolph E Tanzi, Muin J Khoury, Frauke Zipp, Hans Lehrach, John P A Ioannidis, Lars Bertram
Publikováno v:
PLoS Genetics, Vol 8, Iss 3, p e1002548 (2012)
More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD). To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensive
Externí odkaz:
https://doaj.org/article/cfc8c07e05884d89b6a183d737c73b81
Autor:
Juliane Winkelmann, Darina Czamara, Barbara Schormair, Franziska Knauf, Eva C Schulte, Claudia Trenkwalder, Yves Dauvilliers, Olli Polo, Birgit Högl, Klaus Berger, Andrea Fuhs, Nadine Gross, Karin Stiasny-Kolster, Wolfgang Oertel, Cornelius G Bachmann, Walter Paulus, Lan Xiong, Jacques Montplaisir, Guy A Rouleau, Ingo Fietze, Jana Vávrová, David Kemlink, Karel Sonka, Sona Nevsimalova, Siong-Chi Lin, Zbigniew Wszolek, Carles Vilariño-Güell, Matthew J Farrer, Viola Gschliesser, Birgit Frauscher, Tina Falkenstetter, Werner Poewe, Richard P Allen, Christopher J Earley, William G Ondo, Wei-Dong Le, Derek Spieler, Maria Kaffe, Alexander Zimprich, Johannes Kettunen, Markus Perola, Kaisa Silander, Isabelle Cournu-Rebeix, Marcella Francavilla, Claire Fontenille, Bertrand Fontaine, Pavel Vodicka, Holger Prokisch, Peter Lichtner, Paul Peppard, Juliette Faraco, Emmanuel Mignot, Christian Gieger, Thomas Illig, H-Erich Wichmann, Bertram Müller-Myhsok, Thomas Meitinger
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002171 (2011)
Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs th
Externí odkaz:
https://doaj.org/article/759c99583b25499fbfcb451588fa3f53
Autor:
Alison L McCormack, Sally K Mak, Jaimie M Henderson, David Bumcrot, Matthew J Farrer, Donato A Di Monte
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12122 (2010)
The protein alpha-synuclein is involved in the pathogenesis of Parkinson's disease and other neurodegenerative disorders. Its toxic potential appears to be enhanced by increased protein expression, providing a compelling rationale for therapeutic str
Externí odkaz:
https://doaj.org/article/04024e6938b24103b9a640cc88442712
Autor:
Amica C. Müller-Nedebock, Marieke C. J. Dekker, Matthew J. Farrer, Nobutaka Hattori, Shen-Yang Lim, George D. Mellick, Irena Rektorová, Mohamed Salama, Artur F. S. Schuh, A. Jon Stoessl, Carolyn M. Sue, Ai Huey Tan, Rene L. Vidal, Christine Klein, Soraya Bardien
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-11 (2023)
Abstract The biological basis of the neurodegenerative movement disorder, Parkinson’s disease (PD), is still unclear despite it being ‘discovered’ over 200 years ago in Western Medicine. Based on current PD knowledge, there are widely varying t
Externí odkaz:
https://doaj.org/article/8ef87602d608417f925cb5814711f73b
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widel
Externí odkaz:
https://doaj.org/article/66c0687e8cf4413393014cc3043ff3b4