Results 141 to 150 of about 1,440 (186)

Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy. [PDF]

Skelet Muscle
Lloyd EM, Crew RC, Haynes VR, White RB, Mark PJ, Jackaman C, Papadimitriou JM, Pinniger GJ, Murphy RM, Watt MJ, Grounds MD.   +10 more
europepmc   +1 more source

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

Proteomic analysis of the skeletal muscles from dysferlinopathy patients [PDF]

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, Seung Min Kim, Ha Young Shin   +2 more
exaly   +4 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.
Bevilacqua Ja, Claudia Castiglioni, Ana Cárdenas   +2 more
exaly   +3 more sources

Muscle atrophy, ubiquitin–proteasome, and autophagic pathways in dysferlinopathy [PDF]

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 ...
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.
Nicolas Levy, Patricio González-Hormazábal, Bevilacqua Ja   +2 more
exaly   +3 more sources

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Dysferlinopathies: Clinical and genetic variability

Clinical Genetics, 2022
Abstract Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle tissues and is localized in the sarcolemma, where it performs its main function of ...
Alisa, Ivanova, Svetlana, Smirnikhina, Alexander, Lavrov   +2 more
openaire   +2 more sources