Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Anthony H V Schapira"'
Publikováno v:
PLoS ONE, Vol 16, Iss 11, p e0259903 (2021)
Mutations in the PINK1 and PRKN genes are the most common cause of early-onset familial Parkinson disease. These genes code for the PINK1 and Parkin proteins, respectively, which are involved in the degradation of dysfunctional mitochondria through m
Externí odkaz:
https://doaj.org/article/eeff75a814d547dbb23eb3bac39dd8ce
Autor:
Anna Migdalska-Richards, Michal Wegrzynowicz, Ian F Harrison, Guglielmo Verona, Vittorio Bellotti, Maria Grazia Spillantini, Anthony H V Schapira
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0238075 (2020)
Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk factor for Parkinson dise
Externí odkaz:
https://doaj.org/article/796b7cddaa7f4c4da4c453ced6ea0983
Autor:
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor sympt
Externí odkaz:
https://doaj.org/article/492a58c74a1046dba388813690ffc138
Autor:
Kallol Ray Chaudhuri, Jose Manuel Rojo, Anthony H V Schapira, David J Brooks, Fabrizio Stocchi, Per Odin, Angelo Antonini, Richard G Brown, Pablo Martinez-Martin
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0150130 (2016)
Externí odkaz:
https://doaj.org/article/7fbeecacc4224f01b12d73d96729bdc6
Autor:
Kallol Ray Chaudhuri, Jose Manuel Rojo, Anthony H V Schapira, David J Brooks, Fabrizio Stocchi, Per Odin, Angelo Antonini, Richard G Brown, Pablo Martinez-Martin
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e57221 (2013)
BackgroundNon-motor symptoms are present in Parkinson's disease (PD) and a key determinant of quality of life. The Non-motor Symptoms Scale (NMSS) is a validated scale that allows quantifying frequency and severity (burden) of NMS. We report a propos
Externí odkaz:
https://doaj.org/article/7f23afca1ad64ec09e622038810af64e
Autor:
Alisdair McNeill, Ruey-Meei Wu, Kai-Yuan Tzen, Patricia C Aguiar, Jose M Arbelo, Paolo Barone, Kailash Bhatia, Orlando Barsottini, Vincenzo Bonifati, Sevasti Bostantjopoulou, Rodrigo Bressan, Giovanni Cossu, Pietro Cortelli, Andre Felicio, Henrique B Ferraz, Joanna Herrera, Henry Houlden, Marcelo Hoexter, Concepcion Isla, Andrew Lees, Oswaldo Lorenzo-Betancor, Niccolo E Mencacci, Pau Pastor, Sabina Pappata, Maria Teresa Pellecchia, Laura Silveria-Moriyama, Andrea Varrone, Tom Foltynie, Anthony H V Schapira
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69190 (2013)
To compare the dopaminergic neuronal imaging features of different subtypes of genetic Parkinson's Disease.A retrospective study of genetic Parkinson's diseases cases in which DaTSCAN (123I-FP-CIT) had been performed. Specific non-displaceable bindin
Externí odkaz:
https://doaj.org/article/7ac676b8ce984dcbadc0720af90b8e64
Autor:
Selina Wray, Matthew Self, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Patrick A Lewis, Jan-Willem Taanman, Natalie S Ryan, Colin J Mahoney, Yuying Liang, Michael J Devine, Una-Marie Sheerin, Henry Houlden, Huw R Morris, Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A Corriveau, Michael D'Andrea, Anthony H V Schapira, Ryan J Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F Boeve, Kevin Boylan, A Jon Stoessl, Owen A Ross, Nicholas J Maragakis, Jay Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M Dawson, Ole Isacson, Karen S Marder, Lorraine N Clark, Serge E Przedborski, Steven Finkbeiner, Jeffrey D Rothstein, Zbigniew K Wszolek, Martin N Rossor, John Hardy
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43099 (2012)
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models
Externí odkaz:
https://doaj.org/article/9a35e1d7ec9b460c9b9c8d8637a681ec
Autor:
Anne Grünewald, Lisa Voges, Aleksandar Rakovic, Meike Kasten, Himesha Vandebona, Claudia Hemmelmann, Katja Lohmann, Slobodanka Orolicki, Alfredo Ramirez, Anthony H V Schapira, Peter P Pramstaller, Carolyn M Sue, Christine Klein
Publikováno v:
PLoS ONE, Vol 5, Iss 9, p e12962 (2010)
Mutations in Parkin are the most common cause of autosomal recessive Parkinson disease (PD). The mitochondrially localized E3 ubiquitin-protein ligase Parkin has been reported to be involved in respiratory chain function and mitochondrial dynamics. M
Externí odkaz:
https://doaj.org/article/0cdf43fbc1dd4d02a28dc1e66683c592
Publikováno v:
PLoS ONE, Vol 4, Iss 3, p e4756 (2009)
Mitochondrial dysfunction has been implicated in the pathogenesis of Parkinson's disease (PD). Impairment of the mitochondrial electron transport chain (ETC) and an increased frequency in deletions of mitochondrial DNA (mtDNA), which encodes some of
Externí odkaz:
https://doaj.org/article/175ed50b3a724f2a91bce0de4d860687
Autor:
Bibi Aliya Seelarbokus, Elisa Menozzi, Anthony H. V. Schapira, Anastasia Z. Kalea, Jane Macnaughtan
Publikováno v:
Nutrients, Vol 16, Iss 14, p 2181 (2024)
Background: There is mounting evidence to suggest that high adherence to the Mediterranean diet (MedDiet) may reduce the risk of age-related diseases, including Parkinson’s disease (PD). However, evidence for the role of the MedDiet in the relief o
Externí odkaz:
https://doaj.org/article/2cd300ba408a41f59756069cb4670aa5