Results 91 to 100 of about 1,370 (166)

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

Diffuse Anaplastic Wilms Tumor in a Child With LAMA2 -related Muscular Dystrophy. [PDF]

J Pediatr Hematol Oncol, 2022
Shah R, Mohamed D, Ramos-Platt LM, Grikscheit TC, Zhou S, Wong KK, Mascarenhas L.   +6 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

Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants. [PDF]

Ann Indian Acad Neurol, 2023
Finsterer J.
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

Fukuyama Congenital Muscular Dystrophy. [PDF]

Cureus, 2022
Agarwal A, Sabat S, Kanekar S.
europepmc   +1 more source

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging. [PDF]

Neuroradiology
AlRayahi J, AlDasuqi K, AlSubhi M, Mubarak W, Al Walid O.   +4 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

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. [PDF]

J Clin Lab Anal, 2021
Khorrami A, Goleij P, Karamad V, Taheri E, Shadman B, Emami P, Jahangirzadeh G, Hajazimian S, Isazadeh A, Baradaran B, Heidari M.   +10 more
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