Zobrazeno 1 - 10
of 237
pro vyhledávání: '"Tahseen Mozaffar"'
Autor:
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
Abstract Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic
Externí odkaz:
https://doaj.org/article/fb0a803a096f45d484f086ba7b3ad84b
Autor:
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome a
Externí odkaz:
https://doaj.org/article/c61603f586d34df6b7a34a1f86705733
Autor:
Tahseen Mozaffar, Lionel Riou França, Jérôme Msihid, Pragya Shukla, Irina Proskorovsky, Tianyue Zhou, Magali Periquet, Kristina An Haack, Laurence Pollissard, Volker Straub
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101109- (2024)
Background: The efficacy of avalglucosidase alfa (AVA) versus alglucosidase alfa (ALG) on forced vital capacity percent predicted (FVCpp) in patients with late-onset Pompe disease (LOPD) has been assessed in the Phase 3 COMET trial (NCT02782741). Due
Externí odkaz:
https://doaj.org/article/8c1269ee7f074a86a443bd3cdd49e43a
Autor:
Priya Kishnani, Barry Byrne, Kristl Claeys, Paula Clemens, Jordi Díaz-Manera, Mazen Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Antonio Toscano, Noemi Hummel, Fred Holdbrook, Simon Shohet, Benedikt Schoser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100905- (2024)
Externí odkaz:
https://doaj.org/article/7e8f3ffae6b041ad994f1232138e95db
Autor:
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 686-695 (2023)
Abstract Valosin‐containing protein (VCP)‐associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety
Externí odkaz:
https://doaj.org/article/a319ff4d3dcf4e0d84c1086d8301b2c9
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/b802cf0b91df42c7b6619ae2b4d4336b
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Proper evaluation of ocular fundi is an integral part of neurological examination. Unfortunately, neurology residents are increasingly uncomfortable performing fundoscopy and interpreting findings because of diminishing skills and
Externí odkaz:
https://doaj.org/article/f1a3abc87b384366b4ec382b734b8bdb
Autor:
Priya Kishnani, Benedikt Schoser, Drago Bratkovic, Paula Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar, Barry Byrne
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100031- (2023)
Externí odkaz:
https://doaj.org/article/41cbbd3dd64e477caa62c2aca904b5de
Autor:
Manisha Korb, Allison Peck, Lindsay N. Alfano, Kenneth I. Berger, Meredith K. James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P. A. Mammen, Sujata Patel, Gerald Pfeffer, Stuart H. Ralston, Bhaskar Roy, William W. Seeley, Andrea Swenson, Tahseen Mozaffar, Conrad Weihl, Virginia Kimonis, the VCP Standards of Care Working Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget’s disease of bone (PDB), fro
Externí odkaz:
https://doaj.org/article/bf65cfbc490c497cb1d7639887c6cbbe
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the tibialis anterior muscles and with slow progression over time, which largel
Externí odkaz:
https://doaj.org/article/2c7a4b8e6f71402cac02261f9e824096