Results 61 to 70 of about 3,999 (130)

Congenital Myopathy with Type 2 Fiber Deficiency and without Specific Structural Abnormalities

NO TO HATATSU, 1980
Une, Yukiharu, Haraguchi, Hiroyuki
openaire   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source

Statins, skeletal muscle, and ryanodine receptor activation: resolving a 30-year mystery behind statin myotoxicity. [PDF]

Cardiovasc Diabetol Endocrinol Rep
Santulli G.
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +1 more source

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report. [PDF]

Acta Myol
Majoul MS, Zouari R, Hassine A, Mokni M, Ben Sassi S.   +4 more
europepmc   +1 more source

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy. [PDF]

BMC Neurol
Zanotti S, Ronchi D, Napoli L, Ripolone M, Pagliarani S, Ciscato P, Bertolasi L, Del Bo R, Magri F, Velardo D, Comi GP, Corti S, Sciacco M.   +12 more
europepmc   +1 more source

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. [PDF]

J Neuromuscul Dis
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O.   +30 more
europepmc   +1 more source

Thrombosis in Neuromuscular Medicine: Current Evidence, Unmet Needs, and Future Directions. [PDF]

J Clin Med
Quak ZX, Wang F, Tay SKH, Koh PL, Yap ES, Ng KWP.   +5 more
europepmc   +1 more source

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy. [PDF]

BMC Neurol
Pera MC, Pisanò G, Gnazzo M, Moretti S, Gambini L, Percesepe A, Esposito S, Perrone S.   +7 more
europepmc   +1 more source