Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Payam, Mohassel"'
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:
Janelle Geist Hauserman, Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B. Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A. Reghan Foley, Payam Mohassel, Carsten G. Bönnemann
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100274- (2024)
Summary: Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle weakness, cardiomyopathy with associated severe arrhythmias, and respiratory insufficiency, and are collectively known as desminopathies. While most DES p
Externí odkaz:
https://doaj.org/article/74d2a8e88a514d42b9389ff296da85c8
Autor:
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing bo
Externí odkaz:
https://doaj.org/article/35a339c466cb40e8a5e21cd005acc393
Autor:
Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)
Summary: Background: RYR1-related myopathies (RYR1-RM) are caused by pathogenic variants in the RYR1 gene which encodes the type 1 ryanodine receptor (RyR1). RyR1 is the sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-con
Externí odkaz:
https://doaj.org/article/eaee208d483c458182ce30c47fd601c7
Autor:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Autor:
Eleonora Guadagnin, Payam Mohassel, Kory R. Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying, Jahannaz Dastgir, Ying Hu, Allissa Dillmann, Mark R. Cookson, A. Reghan Foley, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2184-2198 (2021)
Abstract Objective To define the transcriptomic changes responsible for the histologic alterations in skeletal muscle and their progression in collagen VI‐related muscular dystrophy (COL6‐RD). Methods COL6‐RD patient muscle biopsies were strati
Externí odkaz:
https://doaj.org/article/dda1fa8944874dd69ded9e0f376f266a
Autor:
Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas A. Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G. Bönnemann, Eric A. Shoubridge, Thorsten Hornemann
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 18 (2022)
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which catalyzes the first step in the de novo synthesis of sphingolipids
Externí odkaz:
https://doaj.org/article/796026b8c3d74b45851ebb4515257d9e
Autor:
Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in children with congenital m
Externí odkaz:
https://doaj.org/article/cc66bc3eb49d4cbe95e9f7527450d77a
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 895-896 (2022)
Externí odkaz:
https://doaj.org/article/86b96745a05a4eaba7e0c5c152cec2a3
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631