Zobrazeno 1 - 10
of 355
pro vyhledávání: '"Thomas Foltynie"'
Autor:
Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P. Verma, Rick Stell, Mark Davis, Phillipa Lamont
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1636-1642 (2024)
Abstract While biallelic POLR3A loss‐of‐function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent‐onset spastic ataxia without overt leukodystrophy.
Externí odkaz:
https://doaj.org/article/606a1f831e304ba5bf12d09ef1a9615f
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:
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and i
Externí odkaz:
https://doaj.org/article/70e73e8ef588464cb23a2e9bc5b7be18
Autor:
Gareth Morinan, Yuriy Dushin, Grzegorz Sarapata, Samuel Rupprechter, Yuwei Peng, Christine Girges, Maricel Salazar, Catherine Milabo, Krista Sibley, Thomas Foltynie, Ioana Cociasu, Lucia Ricciardi, Fahd Baig, Francesca Morgante, Louise-Ann Leyland, Rimona S. Weil, Ro’ee Gilron, Jonathan O’Keeffe
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract Parkinson’s disease (PD) is a common neurological disorder, with bradykinesia being one of its cardinal features. Objective quantification of bradykinesia using computer vision has the potential to standardise decision-making, for patient
Externí odkaz:
https://doaj.org/article/78a5a6a77cc64cf7997cea528920fc1c
Autor:
James Gratwicke, Ludvic Zrinzo, Joshua Kahan, Amy Peters, Una Brechany, Ann McNichol, Mazda Beigi, Harith Akram, Jonathan Hyam, Ashwini Oswal, Brian Day, Laura Mancini, John Thornton, Tarek Yousry, Sebastian J. Crutch, John-Paul Taylor, Ian McKeith, Lynn Rochester, Jonathan M. Schott, Patricia Limousin, David Burn, Martin N. Rossor, Marwan Hariz, Marjan Jahanshahi, Thomas Foltynie
Publikováno v:
Brain Stimulation, Vol 13, Iss 4, Pp 1031-1039 (2020)
Background: Dementia with Lewy bodies (DLB) is the second most common form of dementia. Current symptomatic treatment with medications remains inadequate. Deep brain stimulation of the nucleus basalis of Meynert (NBM DBS) has been proposed as a poten
Externí odkaz:
https://doaj.org/article/6244cd495bf54274b6a34fbd4e88577b
Publikováno v:
Frontiers in Human Neuroscience, Vol 15 (2021)
Background: Neuronal loss in Parkinson’s Disease (PD) leads to widespread neural network dysfunction. While graph theory allows for analysis of whole brain networks, patterns of functional connectivity (FC) associated with motor response to deep br
Externí odkaz:
https://doaj.org/article/0c02223c1d98471ca397df84ee02c17c
Autor:
Petra Fischer, Alek Pogosyan, Alexander L. Green, Tipu Z. Aziz, Jonathan Hyam, Thomas Foltynie, Patricia Limousin, Ludvic Zrinzo, Michael Samuel, Keyoumars Ashkan, Mauro Da Lio, Mariolino De Cecco, Alberto Fornaser, Peter Brown, Huiling Tan
Publikováno v:
Neurobiology of Disease, Vol 127, Iss , Pp 253-263 (2019)
Beta power suppression in the basal ganglia is stronger during movements that require high force levels and high movement effort but it has been difficult to dissociate the two. We recorded scalp EEG and basal ganglia local field potentials in Parkin
Externí odkaz:
https://doaj.org/article/c9ebe08c82b1497786a5985ace129c0d
Autor:
Thomas Foltynie, Thomas Payne, Iain D Wilkinson, Ellen Buckley, Claudia Mazza, Matilde Sassani, Sarah Moll, Adriana Anton, Matthew Appleby, Seema Maru, Rosie Taylor, Alisdair McNeill, N Hoggard, Thomas Jenkins, O Bandmann
Publikováno v:
BMJ Open, Vol 10, Iss 8 (2020)
Introduction There are no disease-modifying treatments for Parkinson’s disease (PD). We undertook the first drug screen in PD patient tissue and idntified ursodeoxycholic acid (UDCA) as a promising mitochondrial rescue agent. The aims of this trial
Externí odkaz:
https://doaj.org/article/6f45a615249f4fe0b13ff4e0dfd82a50
Autor:
Adolfo Ramirez-Zamora, James Giordano, Aysegul Gunduz, Jose Alcantara, Jackson N. Cagle, Stephanie Cernera, Parker Difuntorum, Robert S. Eisinger, Julieth Gomez, Sarah Long, Brandon Parks, Joshua K. Wong, Shannon Chiu, Bhavana Patel, Warren M. Grill, Harrison C. Walker, Simon J. Little, Ro’ee Gilron, Gerd Tinkhauser, Wesley Thevathasan, Nicholas C. Sinclair, Andres M. Lozano, Thomas Foltynie, Alfonso Fasano, Sameer A. Sheth, Katherine Scangos, Terence D. Sanger, Jonathan Miller, Audrey C. Brumback, Priya Rajasethupathy, Cameron McIntyre, Leslie Schlachter, Nanthia Suthana, Cynthia Kubu, Lauren R. Sankary, Karen Herrera-Ferrá, Steven Goetz, Binith Cheeran, G. Karl Steinke, Christopher Hess, Leonardo Almeida, Wissam Deeb, Kelly D. Foote, Michael S. Okun
Publikováno v:
Frontiers in Human Neuroscience, Vol 14 (2020)
The Seventh Annual Deep Brain Stimulation (DBS) Think Tank held on September 8th of 2019 addressed the most current: (1) use and utility of complex neurophysiological signals for development of adaptive neurostimulation to improve clinical outcomes;
Externí odkaz:
https://doaj.org/article/e5c6469c00f34538801f826df4ee5898
Autor:
Bettina Balint, Helen Killaspy, Louise Marston, Thomas Barnes, Anna Latorre, Eileen Joyce, Caroline S. Clarke, Rosa De Micco, Mark J. Edwards, Roberto Erro, Thomas Foltynie, Rachael M. Hunter, Fiona Nolan, Anette Schrag, Nick Freemantle, Yvonne Foreshaw, Nicholas Green, Kailash P. Bhatia, Davide Martino
Publikováno v:
BJPsych Open, Vol 4, Pp 404-410 (2018)
BackgroundMovement disorders associated with exposure to antipsychotic drugs are common and stigmatising but underdiagnosed.AimsTo develop and evaluate a new clinical procedure, the ScanMove instrument, for the screening of antipsychotic-associated m
Externí odkaz:
https://doaj.org/article/28d71113d32e438ebbd2154c304e2e89