Results 51 to 60 of about 3,999 (130)

Biological properties of α-actinin-2 and its role and mechanisms in disease development. [PDF]

Front Physiol
Meng J, Xu SQ, Deng Q, Jiang LL, Huang DP, Wang QS, Wu YK.   +6 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

Rhabdomyolysis: a narrative review. [PDF]

Arq Neuropsiquiatr
Tengan CH, Oliveira ASB, Carvalho AAS, Souza CDS, Sobreira CFDR, Zanoteli E, Silva HCAD.   +6 more
europepmc   +1 more source

<i>ACTA1</i>-related congenital myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Zhao L, Deng F, Cai B.
europepmc   +1 more source

<i>MYBPC1</i>-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case. [PDF]

Front Genet
Velardo D, Alberti C, Gagliardi D, Del Bo R, Ciscato P, Napoli L, Zanotti S, Ripolone M, Croce MG, Cosentino G, Tumminello G, Locatelli M, Comi GP, Corti S, Ravaglia S, Ronchi D.   +15 more
europepmc   +1 more source

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series. [PDF]

Neurol Genet
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.   +19 more
europepmc   +1 more source

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period. [PDF]

Neurol Genet
Cicala G, Mccauley J, Phadke R, Mueller J, Robb SA, Manzur AY, Munot P, Baranello G, Scoto M, Tedesco FS, Mein RA, Walsh C, Muntoni F, Sarkozy A.   +13 more
europepmc   +1 more source

Unexpected perinatal death caused by an occult MTM1 mutation: a case report. [PDF]

Front Med (Lausanne)
Zhu MM, Li DM, Wu YC, Yao Q, Qie MR, Sun WW.   +5 more
europepmc   +1 more source