Results 141 to 150 of about 260,514 (183)

Outcomes of an oral motor and swallowing rehabilitation program in patients with congenital myopathies. [PDF]

Codas
Dornellas ALC, Sassi FC, Ritto AP, Medeiros GC, Andrade CRF.   +4 more
europepmc   +1 more source

Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls. [PDF]

Neurol Genet, 2019
Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M.   +4 more
europepmc   +1 more source

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study. [PDF]

J Neuromuscul Dis
Lehtokari VL, Similä M, Tammepuu M, Isohanni P, Auranen M, Hiekkala S, Wallgren-Pettersson C, Strang-Karlsson S.   +7 more
europepmc   +1 more source

Treatment of idiopathic Inflammatory myopathies

, 2014
Idiopathic inflammatory myopathies are a group of rare, disorders with the primary features of muscle weakness and inflammatory lesions identified in skeletal muscle specimens.
Bercovici, Einav
core  

Pneumatosis Cystoides Intestinalis in Muscular Dystrophy and Congenital Myopathies: A Report of Five Cases. [PDF]

Cureus
Aihara Y, Takeshita E, Chiba E, Yamamoto K, Shimizu-Motohashi Y, Sato N, Ariga H, Komaki H.   +7 more
europepmc   +1 more source

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. [PDF]

Muscle Nerve, 2019
Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB.   +11 more
europepmc   +1 more source

Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies. [PDF]

Neurol Genet, 2017
Bamaga AK, Weihl CC.
europepmc   +1 more source

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. [PDF]

Front Neurol, 2018
Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG.   +15 more
europepmc   +1 more source

The Role of Muscle Biopsy in the Era of Modern Genomic Medicine-A Review. [PDF]

J Clin Med
Sadeh M, Dabby R.
europepmc   +1 more source

Congenital muscular dystrophies and congenital myopathies. [PDF]

Continuum (Minneap Minn), 2013
Iannaccone ST, Castro D.
europepmc   +1 more source