Results 91 to 100 of about 32,083 (123)

Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies. [PDF]

Inflamm Regen
Abdelrehim FG, Sadek Z, Fahim SA, El-Ekiaby N, Abdelaziz AI, Fawzy IO.   +5 more
europepmc   +1 more source

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy. [PDF]

Neurol Genet
Foley AR, Yun P, Leach ME, Neuhaus SB, Averion GV, Hu Y, Hayes LH, Donkervoort S, Jain MS, Waite M, Parks R, Bharucha-Goebel DX, Mayer OH, Zou Y, Fink M, DeCoster J, Mendoza C, Arévalo C, Hausmann R, Petraki D, Cheung K, Bönnemann CG.   +21 more
europepmc   +1 more source

Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families. [PDF]

Neurogenetics
Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.   +5 more
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian Federation. [PDF]

Int J Mol Sci
Chausova P, Cherevatova T, Dadali E, Murtazina A, Bulakh M, Kurbatov S, Anisimova I, Kanivets I, Udalova V, Rudenskaya G, Demina N, Sharkova I, Monakhova A, Tsygankova P, Markova T, Ryzhkova O, Shatohina O, Galkina V, Borovikov A, Mishina I, Shchagina O, Chukhrova A, Polyakov A.   +22 more
europepmc   +1 more source

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population. [PDF]

Sci Rep
Al-Hedaithy A, Alghamdi F, Almomen M, Amer F, Al Dossari S, Noreen Baig D, Bashir S.   +6 more
europepmc   +1 more source

Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report. [PDF]

World J Clin Cases
Yuan J, Yan XM.
europepmc   +1 more source

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns. [PDF]

Cureus
Nmer S, Ameli A, Trhanint S, Chaouki S, Bouguenouch L, Ouldim K.   +5 more
europepmc   +1 more source

Development of perivascular astrocyte processes. [PDF]

Front Neurosci
Cohen-Salmon M, Guille N, Boulay AC.
europepmc   +1 more source