Results 151 to 160 of about 260,514 (183)

Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field. [PDF]

Neurol Ther
Ma S, Luo S, Zhong H.
europepmc   +1 more source

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing. [PDF]

J Neuromuscul Dis
Pion E, Cossée M, Biancalana V, Bourdain CA, Bouchet-Seraphin C, Fauré J, Froissart R, Leturcq F, Menassa R, Metay C, Michel-Calemard L, Nectoux J, Petit F, Rendu J, Richard P, Sternberg D, Vuillaumier-Barrot S, Goethem CV, Thèze C, Attarian S, Krahn M, Gorokhova S.   +21 more
europepmc   +1 more source

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. [PDF]

Muscle Nerve, 2017
Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M.   +10 more
europepmc   +1 more source

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature. [PDF]

Pediatr Rep
Ostojić S, Milenković S, Pavlović S, Kovačević G, Petrović G, Paripović A, Sarajlija A, Anđelković M, Gašić V, Radivojević D.   +9 more
europepmc   +1 more source

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. [PDF]

Neurol Genet, 2017
Witting N, Werlauff U, Duno M, Vissing J.   +3 more
europepmc   +1 more source

Orofacial dysfunction in persons with congenital or childhood-onset neuromuscular disorders. [PDF]

J Neuromuscul Dis
Bengtsson-Stelzer L, Kroksmark AK, Persson C, Tuomi L, Ekström AB.   +4 more
europepmc   +1 more source

Congenital Clubfoot as an Early Manifestation of Duchenne Muscular Dystrophy? [PDF]

Muscles
Kenis V, Shpulev P, Melnik E, Sosnina I, Snegova E.   +4 more
europepmc   +1 more source

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]

Front Pediatr
Sanghamitra S, Mandala R, Budh H, Arora Y, Rivera-Hernandez P, Hpa NJ, Elberson V, Rawat M, Mani S.   +8 more
europepmc   +1 more source

Convergent innate immune and regulated cell-death pathways in selected myopathies. [PDF]

Front Immunol
Yamashita M, Park J, Park S, Kang HJ, Chung YS, Lim SA, Lee S.   +6 more
europepmc   +1 more source

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

J Neuromuscul Dis
Pennisi A, Caramizaru A, Severa G, Sternberg D, Dumitrescu A, Metay C, Biancalana V, Carlier RY, Quijano-Roy S, Malfatti E, Dobrescu A.   +10 more
europepmc   +1 more source