Results 101 to 110 of about 20,235 (200)

An Ultrastructural and Proteomic Analysis in DM1 Young Adults' Myoblasts: Stressed RER and Mitochondrial Dysfunction Involvement

Journal of Cellular and Molecular Medicine, Volume 30, Issue 16, August 2026.
ABSTRACT Myotonic dystrophy type 1 (DM1) is a progressive muscular disorder caused by the expansion of CTG repeats in the 3′ UTR of the DMPK gene. Although the pathogenic mechanisms remain unclear, recent evidence suggests that activation of innate immune responses may contribute to disease progression. In this study, we examined the ultrastructure and
Renata Del Carratore, Alessandra Falleni, Margherita Bernardeschi, Giada Frenzilli, Michela Ripolone, Sabrina Salani, Filippo Geraci, Fabiana Miraglia, Cristina Del Seppia   +8 more
wiley   +1 more source

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

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  

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

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

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