Results 51 to 60 of about 3,620 (169)

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

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

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy [PDF]

Journal of Pediatric Neurology, 2017
AbstractFacioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles.
Jean K, Mah, Yi-Wen, Chen
openaire   +2 more sources

Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source

The relative frequency of common neuromuscular diagnoses in a reference center

Arquivos de Neuro-Psiquiatria
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas   +12 more
doaj   +1 more source

3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot–Marie‐Tooth Neuropathy Type 1A: A Proof‐of‐Concept Study

European Journal of Neurology, Volume 33, Issue 8, August 2026.
In this proof‐of‐concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease CMT1A. Compared with DM1, CMT1A showed higher entropy, contrast, and lower homogeneity, reflecting a reticular vs.
Louise Iterbeke, Lotte Huysmans, Kobe Bamps, Ronald Peeters, Veerle Goosens, Frederik Maes, Patrick Dupont, Kristl G. Claeys   +7 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

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

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +1 more source

The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies

Frontiers in Neurology, 2019
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence.
Emma L. Bostock, Dawn N. O'Dowd, Carl J. Payton, Dave Smith, Paul Orme, Bryn T. Edwards, Christopher I. Morse   +6 more
doaj   +1 more source