Results 151 to 160 of about 924,459 (214)

Congenital Myopathy as a Phenotypic Expression of <i>CACNA1S</i> Gene Mutation: Case Report and Systematic Review of the Literature. [PDF]

Genes (Basel), 2023
Marinella G, Orsini A, Scacciati M, Costa E, Santangelo A, Astrea G, Frosini S, Pasquariello R, Rubegni A, Sgherri G, Corsi M, Bonuccelli A, Battini R.   +12 more
europepmc   +1 more source

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

Hum Mutat
de Feraudy Y, Maino A, Boedec M, Lornage X, Romero NB, Monges S, Lubieniecki F, Foncuberta ME, Tard C, Maurage CA, Csanyi M, Marcorelles P, Stojkovic T, Feasson L, Fradin M, Gousse G, Laugel V, Masingue M, Nadaj-Pakleza A, Bevilacqua JA, Neb Study Group, Rendu J, Bohm J, Biancalana V, Laporte J.   +24 more
europepmc   +1 more source

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course. [PDF]

Acta Myol, 2022
Croci C, Traverso M, Baratto S, Iacomino M, Pedemonte M, Caroli F, Scala M, Bruno C, Fiorillo C.   +8 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>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum. [PDF]

J Med Genet, 2022
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G.   +19 more
europepmc   +1 more source

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

Journal of Neurology Neurosurgery & Psychiatry, 2018
E. Matthews, L. Hartley, R. Sud, M. Hanna, F. Muntoni, P. Munot   +5 more
semanticscholar   +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

Congenital myopathy associated with the triadin knockout syndrome

Neurology, 2017
A. Engel, K. Redhage, D. Tester, M. Ackerman, D. Selcen   +4 more
semanticscholar   +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

Mild congenital myopathy due to a novel variation in SPEG gene. [PDF]

Intractable Rare Dis Res, 2021
Yildirim M, Balasar O, Kose E, Dogan MT.
europepmc   +1 more source