Results 21 to 30 of about 7,259,281 (171)

Muscle-Specific Kinase Signaling and Its Therapeutic Potential. [PDF]

Muscle Nerve
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Jensen SM, Vergoossen DLE, Huijbers MG.
europepmc   +2 more sources

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Costa-Comellas L, Monforte M, Sanchez-Montañez A, Romero-Duque P, Pegoraro E, Díaz-Manera J, Vlodavets D, Maggi L, Moscatelli M, D'Amico A, Olivé M, Alonso-Pérez J, Comi G, Escudero-Fernández JM, Urcuyo GS, Pichiecchio A, Berardinelli A, Claeys KG, Bruno C, Panicucci C, Bortolani S, Torchia E, Ricci E, Monges S, Bevilacqua JA, Diaz-Jara J, Walter MC, Thiele S, Løkken N, Vissing J, Quijano-Roy S, Carlier RY, Voermans NC, Marini-Bettolo C, Guglieri M, Straub V, Leonardis L, Munell F, Gómez-Andrés D, Tasca G.   +39 more
europepmc   +2 more sources

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +2 more sources

Clinical and Pathological Characteristics of Four Korean Patients with Limb-Girdle Muscular Dystrophy type 2B [PDF]

Journal of Korean medical science, 2004
Limb-girdle muscular dystrophy type 2B (LGMD2B), a subtype of autosomal recessive limb-girdle muscular dystrophy (ARLGMD), is characterized by a relatively late onset and slow progressive course.
Seung-Hun Oh, Seong-Woong Kang, Jin-goo Lee, S. Na, T. Kim, Young-Chul Choi   +5 more
semanticscholar   +2 more sources

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. [PDF]

Journal of Molecular Biology, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
P. Patel, Richard J. Harris, S. Geddes, E. Strehle, James D. Watson, R. Bashir, K. Bushby, P. Driscoll, N. Keep   +8 more
semanticscholar   +2 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

Rhabdomyosarcomas in aging A/J mice. [PDF]

PLoS ONE, 2011
Rhabdomyosarcomas (RSCs) are skeletal muscle neoplasms found in humans and domestic mammals. The A/J inbred strain developed a high frequency (between 70-80%) of adult pleomorphic type (APT) RSC at >20 months of age while BALB/cByJ also develop RSC but ...
Roger B Sher, Gregory A Cox, Kevin D Mills, John P Sundberg   +3 more
doaj   +1 more source

The challenging diagnosis of dysferlinopathy – a case report [PDF]

Romanian Journal of Neurology, 2021
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian   +4 more
doaj   +1 more source

Functions of Vertebrate Ferlins

Cells, 2020
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj   +1 more source

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 more
doaj   +1 more source