Results 101 to 110 of about 21,194 (199)

Classification of Neuromuscular Disorders Based an Clinical Criteria , Molocular and Immunohistochemisty Analysis in Tehran Pateints

Journal of Rehabilitation, 2005
Objective: Neuromuscular disordres are a gorup of heterogenous inherited diseases. More than 150 types of these group of disorders have been known.The criticals that were used for classification of these disease include: age of onset, clinical course ...
Kimia Kahrizi, Yousef Shafaghati, Elaheh Keyhani, Mandana Hassan-Zad, Mojtaba A'zimiyan, Fereidoun Layeghi, Afshin Vojdani-Rowshan, John Andoni-Ortizbera, Daniel Hentay, Hossein Najm-Abadi   +9 more
doaj  

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A. [PDF]

Front Genet, 2023
Diaz-Lombana N, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H.   +3 more
europepmc   +1 more source

Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy. [PDF]

Dis Model Mech, 2023
Oliveira-Santos A, Dagda M, Wittmann J, Smalley R, Burkin DJ.   +4 more
europepmc   +1 more source

Congenital Muscular Dystrophy due to POMGNT1 Mutation Presenting as Cardioembolic Stroke. [PDF]

Ann Indian Acad Neurol, 2022
Iype M, Mithran OS, Ayyappan A, Iype M.
europepmc   +1 more source

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

Case Report: Dental treatment under general anesthesia for a child with Ullrich congenital muscular dystrophy. [PDF]

Front Dent Med
Cheang S, Chen W, Wang S, Wang X, Wan K, Ma L.   +5 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

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

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

Exploratory proteomic analysis of Megaconial congenital muscular dystrophy skeletal myoblasts suggests cytoskeletal and contractile alterations. [PDF]

BMC Neurol
Aksu-Mengeş E, Akpınar G, Kasap M, Balcı-Hayta B.   +3 more
europepmc   +1 more source