Results 141 to 150 of about 12,116 (229)

Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report. [PDF]

Clin Case Rep
Zhao C, Li Y, Li J, Xiong J.
europepmc   +1 more source

First Identification of CGG-Repeat Expansions in <i>LRP12</i> in Korean Families With Oculopharyngodistal Myopathy Type 1. [PDF]

J Clin Neurol
Lee K, Mitsutake A, Ishiura H, Park HJ.
europepmc   +1 more source

Atypical manifestation of late onset limb girdle muscular dystrophy presenting with recurrent falling and shoulder dysfunction: a case report [PDF]

, 2008

core   +1 more source

Immune Myositis Complicating Follicular Lymphoma: Case Report. [PDF]

Reports (MDPI)
Zacharia GS, Ajai Mokan Dasan SL, Iwuaba C.   +2 more
europepmc   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

Rhabdomyolysis after ERCP in a patient with pancreatic adenocarcinoma: a paraneoplastic phenomenon? [PDF]

Oxf Med Case Reports
Aljunaidi R, Qafisheh Q, Shubietah A, Elgendy MS, Baniowda MA, Emara A, Qwaider M, Safi F.   +7 more
europepmc   +1 more source

Distal myopathy [PDF]

, 2020
openaire   +1 more source

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy. [PDF]

Cureus
Alyami NH, Musallam SH, Al Greshah H, Alabatahee N, Alyami T, Al Abdali A.   +5 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 more
europepmc   +1 more source

Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle. [PDF]

J Hum Genet
Inoue M.
europepmc   +1 more source