Results 101 to 110 of about 1,335 (167)

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum. [PDF]

Sci Rep, 2023
Summa S, Ittiwut C, Kulsirichawaroj P, Paprad T, Likasitwattanakul S, Sanmaneechai O, Boonsimma P, Suphapeetiporn K, Shotelersuk V.   +8 more
europepmc   +1 more source

Mechano-Signal Transduction Pathways of the Diaphragmatic Muscle and Role of Cytoskeleton. [PDF]

Genes (Basel)
Mohamed JS, Pardo PS, Boriek AM.
europepmc   +1 more source

An international retrospective early natural history study of LAMA2-related dystrophies. [PDF]

J Neuromuscul Dis
Hinkley L, Orbach R, Park J, Alvarez R, Dziewczapolski G, Bönnemann CG, Foley AR.   +6 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 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

Prevalence of human T-cell leukemia virus type 1 associated inflammatory myopathies (HAIM) in Salvador, Brazil. [PDF]

PLoS Negl Trop Dis
Viriato ARF, Costa MCM, Zanoteli E, de Freitas LAR, Araújo THA, Boa-Sorte N, Rios Grassi MF, Galvão-Castro B.   +7 more
europepmc   +1 more source

Editorial: Rare diseases research and diagnosis in low- and middle-income countries. [PDF]

Front Genet
Gonzaga-Jauregui C, Casals F, Dissanayake VHW.   +2 more
europepmc   +1 more source

AAV-mediated gene transfer of a novel microdystrophin ameliorates pathology and enhances muscle function in a mouse model of DMD. [PDF]

Mol Ther Nucleic Acids
Owusu L, Kim S, Patel H, Foltz S, Chan GNY, Kim KH, Kopen A, Yang L, Lawlor MW, Buss N, Cunningham JJ, Liu Y, Danos O, Fiscella M.   +13 more
europepmc   +1 more source

Identification of LAMA2 compound heterozygous variants: a case report. [PDF]

Transl Pediatr
Ying Y, Ye J, Shen J, Chen G, Jiang K.
europepmc   +1 more source