Results 161 to 170 of about 924,459 (214)

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

Brain : a journal of neurology, 2017
N. Vasli, E. Harris, J. Karamchandani, E. Bareke, J. Majewski, N. Romero, T. Stojkovic, R. Barresi, H. Tasfaout, R. Charlton, E. Malfatti, Johann Bohm, C. Marini-Bettolo, K. Choquet, M. Dicaire, Y. Shao, A. Topf, E. O'Ferrall, B. Eymard, V. Straub, G. Blanco, Hanns Lochmüller, B. Brais, J. Laporte, M. Tétreault   +24 more
semanticscholar   +1 more source

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights. [PDF]

Neuropathol Appl Neurobiol
Madrigal I, Villar-Vera C, Arca G, Expósito-Escudero J, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina A, Estévez-Arias B, Carrera-Garcia L, Ortez C, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento A, Jou C, Vilchez JJ, Natera-de Benito D.   +19 more
europepmc   +1 more source

Myocardial Strain Assessment by 2D Speckle-Tracking Echocardiography in Patients with Congenital Myopathy. [PDF]

J Cardiovasc Echogr, 2021
Çap M, Akyüz A, Isik F, Türken A, Erdoğan E, Varsak S, Burak C, Süleymanoğlu M, Baysal E.   +8 more
europepmc   +1 more source

Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.

Journal of Clinical Investigation, 2017
James B. Papizan, Glynnis A. Garry, Svetlana Brezprozvannaya, John R. McAnally, R. Bassel-Duby, Ning Liu, E. Olson   +6 more
semanticscholar   +1 more source

A Novel Bi-Allelic Mutation in the Paired Box 7 Gene Causing Congenital Myopathy 19 in an Indian Family. [PDF]

Ann Indian Acad Neurol
Saluja A, Sahib A, Haque A, Yadav V.
europepmc   +1 more source

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors. [PDF]

Elife, 2022
Ruiz A, Benucci S, Duthaler U, Bachmann C, Franchini M, Noreen F, Pietrangelo L, Protasi F, Treves S, Zorzato F.   +9 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

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

Neurology, 2017
S. Mercier, X. Lornage, E. Malfatti, P. Marcorelles, F. Letournel, C. Boscher, G. Caillaux, A. Magot, J. Böhm, A. Boland, J. Deleuze, N. Romero, Y. Péréon, J. Laporte   +13 more
semanticscholar   +1 more source

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population. [PDF]

Genes (Basel), 2021
AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N.   +10 more
europepmc   +1 more source

Symptomatic and Prophylactic Dantrolene Treatment in a Case of RYR1 -Related Congenital Myopathy. [PDF]

Ann Indian Acad Neurol
Şenol HB, Polat AI, Aydın A, Hız AS, Yiş U.   +4 more
europepmc   +1 more source