Zobrazeno 1 - 7
of 7
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:
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
Autor:
James F. Howard Jr, Chafic Karam, Marcus Yountz, Fanny L. O’Brien, Tahseen Mozaffar, for the REGAIN Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1398-1407 (2021)
Abstract Objective Generalized myasthenia gravis (gMG) is an autoimmune disease that causes disabling weakness via damage to the neuromuscular junction. In most patients, the disease is mediated by autoantibodies to the acetylcholine receptor, which
Externí odkaz:
https://doaj.org/article/b859aad162d34dccb7c5e73f7e6c2f00
Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies
Autor:
Chiseko Ikenaga, Andrew R. Findlay, Namita A. Goyal, Sarah Robinson, Jonathan Cauchi, Yessar Hussain, Leo H. Wang, Joshua C. Kershen, Brent A. Beson, Michael Wallendorf, Robert C. Bucelli, Tahseen Mozaffar, Alan Pestronk, Conrad C. Weihl
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 571-578 (2021)
Abstract Objective To define the clinicopathologic features and diagnostic utility associated with anti‐cytosolic 5′‐nucleotidase 1A (NT5C1A) antibody seropositivity in idiopathic inflammatory myopathies (IIMs). Methods Anti‐NT5C1A antibody s
Externí odkaz:
https://doaj.org/article/dbc8d0799a744d33a15998849a84520d
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. 10:686-695
Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies
Autor:
Leo H. Wang, Namita Goyal, Alan Pestronk, Jonathan Cauchi, Conrad C. Weihl, Yessar Hussain, Sarah Robinson, Chiseko Ikenaga, Joshua C. Kershen, Michael Wallendorf, Robert C. Bucelli, Andrew R. Findlay, Tahseen Mozaffar, Brent A. Beson
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 571-578 (2021)
Annals of clinical and translational neurology, vol 8, iss 3
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 8, iss 3
Annals of Clinical and Translational Neurology
Author(s): Ikenaga, Chiseko; Findlay, Andrew R; Goyal, Namita A; Robinson, Sarah; Cauchi, Jonathan; Hussain, Yessar; Wang, Leo H; Kershen, Joshua C; Beson, Brent A; Wallendorf, Michael; Bucelli, Robert C; Mozaffar, Tahseen; Pestronk, Alan; Weihl, Con
Autor:
Randall Beadling, Cristina da Silva, Matthew B. Harms, Tahseen Mozaffar, Zachary Whitt, Laura E. Rufibach, John J. Alexander, Matthew Wicklund, Syed Hussain Askree, Christin D. Collins, Lora J. H. Bean, Rashna S Dastur, Arunkanth Ankala, Samya Chakravorty, Plavi Mittal, Satish V Khadilkar, Akanchha Kesari, Pradnya S Gaitonde, Alice K. Tanner, Madhuri Hegde, Babi Ramesh Reddy Nallamilli, Thomas Schneider
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 5, iss 12
Annals of clinical and translational neurology, vol 5, iss 12
Author(s): Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins,