Results 141 to 150 of about 35,591 (238)

Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. [PDF]

Sci Rep, 2022
Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K.   +7 more
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

Novel CMR findings in megaconial congenital muscular dystrophy. [PDF]

Kaohsiung J Med Sci, 2022
Chen X, Yang ZX, Tang SQ, Zhang Q.
europepmc   +1 more source

Early Introduction of Power Mobility Devices for Children with Fukuyama Congenital Muscular Dystrophy and Its Psychological Impact on Caregivers: A Case Report. [PDF]

Pediatr Rep, 2023
Fujita H.
europepmc   +1 more source

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion. [PDF]

J Vet Intern Med, 2022
Shelton GD, Minor KM, Thomovsky S, Guo LT, Friedenberg SG, Cullen JN, Mickelson JR.   +6 more
europepmc   +1 more source

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. [PDF]

Sci Rep, 2021
Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K.   +7 more
europepmc   +1 more source

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review. [PDF]

Skelet Muscle, 2022
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D.   +16 more
europepmc   +1 more source

Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy. [PDF]

PLoS Genet
Flannery KP, Mowla S, Battula N, Clark LR, Oliveira CD, Simhon LM, Liu D, Venkatesan C, Karas BF, Terez KR, Burbano D, Manzini MC.   +11 more
europepmc   +1 more source

LAMA2 Nonsense Variant in an Italian Greyhound with Congenital Muscular Dystrophy. [PDF]

Genes (Basel), 2021
Christen M, Indzhova V, Guo LT, Jagannathan V, Leeb T, Shelton GD, Brocal J.   +6 more
europepmc   +1 more source

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy. [PDF]

BMC Med Genomics
Nejati P, Falsafi N, Alimoradi E, Khosravi T, Kamari M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source