Results 191 to 200 of about 1,023,457 (221)

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

Coexistence of VLCAD deficiency and Hashimoto's thyroiditis: a rare case report. [PDF]

BMC Endocr Disord
Gunay YE, Aydın G, Dulger AC.
europepmc   +1 more source

X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]

J Neuromuscul Dis
Pannia E, Karolczak S, Stine R, Dowling JJ.   +3 more
europepmc   +1 more source

The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases. [PDF]

Cells
Avdonina ED, Kutsev SI, Shestopalov AV.
europepmc   +1 more source

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes. [PDF]

Front Neurol
Alvi JR, Wasim A, Ahdi SG, Sultan T, Zia-Ur-Rehman M, Al-Thihli K, Al Murshedi F, Al Futaisi A.   +7 more
europepmc   +1 more source

Statins promote muscle metabolic danger and NLRP3-mediated myopathy via lower protein-prenylation and YAP. [PDF]

Sci Adv
Robin N, Barra NG, Foley KP, Li YE, Tamrakar AK, Patoli D, Rebalka IA, Cree T, Bibby K, Nguyen K, Davis R, Chan DY, Duggan BM, Henriksbo BD, Borges ME, Kukje Zada D, Fang H, Marko DM, Gregorevic P, Watt KI, Mills RJ, Sweeney G, Hawke TJ, Py BF, Schertzer JD.   +24 more
europepmc   +1 more source

When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study. [PDF]

Arq Neuropsiquiatr
Martins AP, Martinez ARM, Nucci A, França Júnior MC.   +3 more
europepmc   +1 more source