Results 51 to 60 of about 365 (121)

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist.
Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba   +7 more
doaj   +1 more source

Diagnostic utility of inflammatory markers in formalin‐fixed and paraffin‐embedded muscle biopsies for idiopathic inflammatory myopathies

Histopathology, EarlyView.
Formalin‐fixed, paraffin‐embedded (FFPE) muscle tissue supports robust immunohistochemical detection of MHC II, MxA, and p62 with performance comparable to frozen sections. This approach reliably identifies the pathological signatures of inclusion body myositis, dermatomyositis, immune‐mediated necrotizing myopathy, and overlap myositis, enhancing the ...
Chinnawut Suriyonplengsaeng, Jariya Waisayarat   +1 more
wiley   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1106-1117, June 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Facial paresis as the first sign in atypical facioscapulohumeral muscular dystrophy

Otolaryngology Case Reports, 2022
Background: Facioscapulohumeral muscular dystrophy (FSHD) is the one of the most common types of muscular dystrophy. We present a retrospective case description of a patient with late-onset, atypical FSHD and provide an overview of the clinical history ...
Nneoma S. Wamkpah, John J. Chi
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD

Molecular Therapy: Methods & Clinical Development, 2018
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy.
Lindsay M. Wallace, Nizar Y. Saad, Nettie K. Pyne, Allison M. Fowler, Jocelyn O. Eidahl, Jacqueline S. Domire, Danielle A. Griffin, Adam C. Herman, Zarife Sahenk, Louise R. Rodino-Klapac, Scott Q. Harper   +10 more
doaj   +1 more source

A Comment on “Muscle Xenografts Reproduce Key Molecular Features of Facioscapulohumeral Muscular Dystrophy”: What Is New and What Has Already been Done and Reported but Was Not Quoted?

Cell Transplantation, 2020
A study was recently published that sought to develop an in vivo model of facioscapulohumeral muscular dystrophy by transplanting muscle precursor cells from a patient into immunodeficient mice.
Daniel Skuk, Jacques P Tremblay
doaj   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, Volume 99, Issue 6, Page 1545-1554, June 2026.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN, Jeffrey Statland, Mazen Dimachkie, Constantine Farmakidis, Mamantha Pasnoor, Duaa Jabari, Omar Jawdat, Melissa Currence, Sandhya Sasidharan, Kiley Higgs, Michaela Walker, Rebecca Clay, Rabi Tawil, Johanna Hamel, Kate Eichinger, Leann Lewis, Samantha LoRusso, Bakri Elsheikh, W. David Arnold, Kristina Kelly, Marco Tellez, Leo H. Wang, Matthew K Preston, Catherine Kieu, Aliya Shabbir, Russell Butterfield, Clark Moser, Melissa McIntyre, Amelia Wilson, Sarah Moldt, Katheryn Wagner, Doris Leung, Andrea Jaworek, Nikia Stinson, Mary Yep, Perry Shieh, Christy Skura, Jennifer Huynh, Nicholas Johnson, Amanda Butler, Aileen Jones, Jodie Howell, Karlien Mul, Valeria Sansone, Elena Carraro, Valentina Franchino, Erica DiNatale, Michael Nani, Sabrina Sacconi, Luisa Villa, Giulia Tammam, Jeremy Garcia, Manuela Gambella, Sandray Ayari   +68 more
wiley   +1 more source

Development and Validation of a Deep Learning‐Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, Volume 73, Issue 6, Page 1096-1102, June 2026.
ABSTRACT Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a muscle disease that leads, among other manifestations, to facial weakness. This weakness can severely impact communication and quality of life, yet it remains under‐researched with limited objective clinical measures.
T. G. J. Loonen, T. C. ten Harkel, S. C. C. Vincenten, C. G. C. Horlings, C. H. G. Beurskens, S. Knuijt, G. W. A. M. Padberg, B. G. M. van Engelen, T. J. J. Maal, K. Mul   +9 more
wiley   +1 more source

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

Cells, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the ...
Mehdi Ghasemi, Charles P. Emerson, Lawrence J. Hayward   +2 more
doaj   +1 more source