Results 151 to 160 of about 38,417 (217)

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

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

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

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

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. [PDF]

J Clin Invest, 2021
van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA.   +24 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source