Results 141 to 150 of about 3,572 (228)

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

Clinico-Radiological Diagnosis of Merosin Deficient Congenital Muscular Dystrophy- A Case Report

, 2020
A PaiAshutosh
semanticscholar   +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

Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report.

Biomedical Reports, 2017
Yingyin Liang, Guidian Li, Song-lin Chen, R. He, Xiang-xue Zhou, Ying-Ming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang   +8 more
semanticscholar   +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

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

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

Laminin 211 inhibits protein kinase A in Schwann cells to modulate neuregulin 1 type III-driven myelination [PDF]

, 2017
et al.,, Mogha, Amit, Monk, Kelly
core   +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

Editorial: Advances in the medical management of infantile hemangioma. [PDF]

Front Oncol, 2023
Wu H, Ji Y, Zheng J.
europepmc   +1 more source