Results 161 to 170 of about 8,751 (233)

Regional anesthesia and muscle-wasting diseases in pediatrics: A focused educational review. [PDF]

Saudi J Anaesth
Elhamrawy A, Elmitwalli I, Burrier C, Veneziano G, Tobias JD.   +4 more
europepmc   +1 more source

Genomics of pediatric cardiomyopathy. [PDF]

Pediatr Res
Lee TM, Ware SM, Kamsheh AM, Bhatnagar S, Absi M, Miller E, Purevjav E, Ryan KA, Towbin JA, Lipshultz SE.   +9 more
europepmc   +1 more source

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis. [PDF]

Int J Mol Sci
Lisowska M, Rowińska M, Suszyńska A, Bearzi C, Łaczmańska I, Hanusek J, Kunik A, Dzianisava V, Rzepecki R, Machowska M, Piekarowicz K.   +10 more
europepmc   +1 more source

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy. [PDF]

Front Genet
Santos JL, Miranda JP, Lagos CF, Cortés VA.   +3 more
europepmc   +1 more source

Adult-Onset PLEC-Related Congenital Myasthenic Syndrome-Myopathy Overlap with Upper Limb Predominant Weakness

Jose A, Azily A, Doyle K, Stals K, Lees H, McKenna C, McKnight AJ, McConville J, McMacken G.   +8 more
europepmc   +1 more source

Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol. [PDF]

Orphanet J Rare Dis
Smith IC, Abusetah Y, Osman H, Garg A, Grant A, Lochmuller H, McMillan H, Pfeffer G, Korngut L, Gagnon C, Lintern S, Wojtal D, Selby K, Thavorn K, Warman-Chardon J.   +14 more
europepmc   +1 more source

Advanced Heart Failure Therapies in Neuromuscular Diseases. [PDF]

Curr Treat Options Cardiovasc Med
Agdamag AC, Nandar PP, Tang WHW.
europepmc   +1 more source

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency. [PDF]

Eur J Hum Genet
Bulmer L, Ljungman C, Hallin J, Dahlberg P, Polte CL, Hedberg-Oldfors C, Oldfors A, Gummesson A.   +7 more
europepmc   +1 more source

Interplay between microtubule interactome, myonuclei mechanotransduction, and positioning in myopathies. [PDF]

Nucleus
Castellano L, Caillol D, Streichenberger N, Gache V.   +3 more
europepmc   +1 more source

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Nature Genetics, 1994
S. Bione, E. Maestrini, S. Rivella, M. Mancini, S. Regis, G. Romeo, D. Toniolo   +6 more
semanticscholar   +3 more sources