Results 61 to 70 of about 690 (122)

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A. [PDF]

Eur J Transl Myol, 2023
Mastrapasqua M, Rossi R, De Cosmo L, Resta A, Errede M, Bizzoca A, Zampatti S, Resta N, Giardina E, Ruggieri M, Virgintino D, Annese T, Laforgia N, Girolamo F.   +13 more
europepmc   +1 more source

Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies. [PDF]

Biomolecules, 2023
Rawls A, Diviak BK, Smith CI, Severson GW, Acosta SA, Wilson-Rawls J.   +5 more
europepmc   +1 more source

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy

The Application of Clinical Genetics, 2019
Quynh Nguyen,*,1 Kenji Rowel Q Lim,*,1 Toshifumi Yokota,1,21Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada; 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada,
Nguyen Q, Lim KRQ, Yokota T
doaj  

A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review. [PDF]

Front Med (Lausanne), 2022
Wang Y, Fang Y, Zhang D, Li Y, Luo S.
europepmc   +1 more source

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. [PDF]

Hum Mol Genet, 2022
Smith SJ, Fabian L, Sheikh A, Noche R, Cui X, Moore SA, Dowling JJ.   +6 more
europepmc   +1 more source

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source

LAMA2 Triple Variant in a Mexican Child with Congenital Muscular Dystrophy. [PDF]

Ann Indian Acad Neurol
Pinto-Escalante D, Fuentes-Olán M, Contreras-Capetillo S, González-Herrera LJ, Rubi-Castellanos R.   +4 more
europepmc   +1 more source

Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands. [PDF]

Neuromuscul Disord, 2021
Smeets HJM, Verbrugge B, Springuel P, Voermans NC, MDC1A Workshop Group.   +4 more
europepmc   +1 more source

High Anion Gap Metabolic Acidosis (HAGMA) After Levetiracetam Administration in an 11-Year-Old Boy With Laminin-α2-Deficiency-Associated Muscular Dystrophy and Epilepsy. [PDF]

J Pediatr Pharmacol Ther
Beusker PE, Mehrtens DM, Hamelmann E, Classen G.   +3 more
europepmc   +1 more source

Advances and clinical potential of epigenome editing. [PDF]

Cell Mol Life Sci
Choi I, Kim S, Baek I.
europepmc   +1 more source