Results 141 to 150 of about 1,438 (185)

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies. [PDF]

Sci Rep
Hnilicova P, Grendar M, Turcanova Koprusakova M, Trancikova Kralova A, Harsanyiova J, Krssak M, Just I, Misovicova N, Hikkelova M, Grossmann J, Spalek P, Meciarova I, Kurca E, Zilka N, Zelenak K, Bogner W, Kolisek M.   +16 more
europepmc   +1 more source

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene. [PDF]

Int J Mol Sci
Kuchina A, Murtazina A, Borovikov A, Subbotin D, Bardakov S, Akhkiamova M, Nikolaeva A, Shchagina O, Kutsev S.   +8 more
europepmc   +1 more source

Dysferlin and the Regulation of Ca²⁺ Release in Skeletal Muscle. [PDF]

Cells
Bloch RJ, Muriel J, Lukyanenko V.
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 more
europepmc   +1 more source

Portrait of Dysferlinopathy: Diagnosis and Development of Therapy

Journal of Clinical Medicine, 2023
Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule development and maintenance, Ca2+ signalling, and the regulation of various molecules.
Camille Bouchard, Jacques P Tremblay, Tremblay Jacques P   +2 more
exaly   +4 more sources

Proteomic analysis of the skeletal muscles from dysferlinopathy patients

Journal of Clinical Neuroscience, 2020
Dysferlinopathy is an autosomal recessive disease caused by pathogenic variants in DYSF gene. We compared muscle protein extracts from dysferlinopathy patients and control subjects to identify new biomarkers of this myopathy.
Young-Chul Choi, Ji-Man Hong, Kee Duk Park   +2 more
exaly   +3 more sources

Broadening the imaging phenotype of dysferlinopathy at different disease stages [PDF]

Muscle and Nerve, 2016
Introduction: MRI characterization of dysferlinopathy has been mostly limited to the lower limbs. We aimed to broaden the MRI description of dysferlinopathy and to correlate it with objective measures of motor dysfunction.
Jorge Diaz, Pablo Caviedes, Ana M Cárdenas   +2 more
exaly   +2 more sources

Muscle atrophy, ubiquitin–proteasome, and autophagic pathways in dysferlinopathy

Muscle and Nerve, 2014
Introduction: Muscle fiber atrophy and the molecular pathways underlying this process have not been investigated in dysferlinopathy patients. Methods: In 22 muscles from dysferlinopathy patients we investigated fiber atrophy by morphometry and ubiquitin ...
Marina Fanin, Corrado Angelini
exaly   +2 more sources

Toward an objective measure of functional disability in dysferlinopathy [PDF]

Muscle and Nerve, 2016
Artículo de publicación ISIIntroduction: Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols.
Martin Krahn, Claudia Castiglioni, Mario Campero   +2 more
exaly   +2 more sources