Results 71 to 80 of about 139 (121)

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
doaj   +1 more source

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies

BMJ Open
Introduction Congenital myopathies (CMYO) are a group of rare hereditary muscle diseases defined by characteristic abnormalities on muscle biopsy. Several types, including the core myopathies central core disease and multi-minicore disease, nemaline ...
Heinz Jungbluth, Renske I Wadman, Nicol C Voermans, Bart Bartels, W Ludo van der Pol, Nens van Alfen, Jan T Groothuis, Sanne A J H van de Camp, Roosmarijn Brenninkmeijer, Jeroen L M van Doorn, Elisabeth C M de Laat, Lisa Pomp, Lizan Stinissen, Donnie Cameron, Corrie E Erasmus, Nicoline B M Voet   +15 more
doaj   +1 more source

Nemaline myopathy [PDF]

, 2020
openaire   +1 more source

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Acta Neuropathologica Communications, 2018
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini   +15 more
doaj   +1 more source

Nemaline Myopathy

NO TO HATATSU, 1973
openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Genetics of the nemaline myopathies and the myotubular myopathies

Neuromuscular Disorders, 1998
C Wallgren-Pettersson
exaly   +3 more sources

Nemaline myopathy

Neurology, 1967
NEMALINE MYOPATHY, first described by Shy et al in 1963, 1 is a muscle disease of presently undetermined etiology. Previously reported cases have shown mild to moderate muscle weakness. The present case differs in the severity and widespread distribution of the disease. It is the first reported case with severe involvement of the muscles of deglutition
P, Hudgson, D, Gardner-Medwin, J J, Fulthorpe, J N, Walton   +3 more
openaire   +4 more sources

Nemaline Myopathies

Seminars in Pediatric Neurology, 2011
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. The patients' muscle weakness is usually generalized, but there may be a selective pattern of more pronounced ...
Carina, Wallgren-Pettersson, Caroline A, Sewry, Kristen J, Nowak, Nigel G, Laing   +3 more
openaire   +3 more sources

Nemaline Myopathy

Archives of Neurology, 1964
Introduction A newly recognized disease of skeletal muscle was discovered recently in a 4-year-old girl. 1,2 The child had congenital, apparently nonprogressive, muscular weakness that was more severe proximally. In her biopsied skeletal muscle fibers were abnormal rod-shaped structures, which cytochemically appeared to be altered myofibrillar ...
W K, ENGEL, T, WANKO, G M, FENICHEL
openaire   +3 more sources