Zobrazeno 1 - 10
of 322
pro vyhledávání: '"MICHAEL E. SHY"'
Autor:
Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 607-617 (2024)
Abstract Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accu
Externí odkaz:
https://doaj.org/article/b655160e70c64a5fac42d356158f7451
Autor:
Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews
Publikováno v:
Case Reports in Neurology, Pp 1-1 (2023)
Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow
Externí odkaz:
https://doaj.org/article/3d0bf05c17e4433e9a51434f5dbe929e
Autor:
Katy Eichinger, Janet E. Sowden, Joshua Burns, Michael P. McDermott, Jeffrey Krischer, John Thornton, Davide Pareyson, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
With therapeutic trials on the horizon for Charcot-Marie-Tooth type 1A (CMT1A), reliable, valid, and responsive clinical outcome assessments and biomarkers are essential. Accelerate Clinical Trials in CMT (ACT-CMT) is an international study designed
Externí odkaz:
https://doaj.org/article/d46dcb0d9ea4402aa80c7dfef06a61b5
Autor:
Hongge Wang, Matthew Davison, Kathryn Wang, Tai‐He Xia, Martin Kramer, Katherine Call, Jun Luo, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, John J. Moran, Laurie Gutmann, Shawna M. E. Feely, Tiffany Grider, Alexander M. Rossor, Mary M. Reilly, John Svaren, Michael E. Shy
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 69-82 (2020)
Abstract Objective Development of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A rece
Externí odkaz:
https://doaj.org/article/dc9e0a2aa18948ce9654a875eb019133
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS
Autor:
Kayla M. D. Cornett, Manoj P. Menezes, Paula Bray, Rosemary R. Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Tim Estilow, Sabrina W. Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M. Reilly, Richard S. Finkel, Katy J. Eichinger, David N. Herrmann, Michael E. Shy, Joshua Burns, CMTPedS Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1713-1715 (2020)
Abstract The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was to identify the most responsive patient subset(s), based on the standardized respon
Externí odkaz:
https://doaj.org/article/4e4fc26a6202461d90f33f1f848aad27
Autor:
Xiawei Dang, Emily K. Walton, Barbara Zablocka, Robert H. Baloh, Michael E. Shy, Gerald W. Dorn
Publikováno v:
Cells, Vol 11, Iss 6, p 1053 (2022)
Mitochondrial fusion is essential to mitochondrial fitness and cellular health. Neurons of patients with genetic neurodegenerative diseases often exhibit mitochondrial fragmentation, reflecting an imbalance in mitochondrial fusion and fission (mitoch
Externí odkaz:
https://doaj.org/article/6901f73ebdb242989b6f1a86420102d2
Autor:
Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Publikováno v:
Neurobiology of Disease, Vol 58, Iss , Pp 220-230 (2013)
Mutations in the DYNC1H1 gene encoding for dynein heavy chain cause two closely related human motor neuropathies, dominant spinal muscular atrophy with lower extremity predominance (SMA–LED) and axonal Charcot–Marie–Tooth (CMT) disease, and lea
Externí odkaz:
https://doaj.org/article/7d3226828a914e8f87d56033c9cb35bf
Autor:
Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-o
Externí odkaz:
https://doaj.org/article/661d61dbe508436db25e09b4381af760
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
Introduction. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves). Methods. A 27-year-old gentleman was a fast runner and able to play socce
Externí odkaz:
https://doaj.org/article/d626478456364ac9af923023b1522c66
Autor:
Mary M. Reilly, David N. Herrmann, Davide Pareyson, Steven S. Scherer, Richard S. Finkel, Stephan Züchner, Joshua Burns, Michael E. Shy
Publikováno v:
Annals of Neurology. 93:906-910
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45a688c3310cdb9712a3e32be4eb6f64
https://doi.org/10.1002/ana.26633
https://doi.org/10.1002/ana.26633