Results 101 to 110 of about 1,438 (185)

Open-Source Tools for Neuromuscular Electrical Stimulation in Mouse Models: A Methodological Validation Study

Muscles
Neuromuscular electrical stimulation (NMES) is integral to studying muscle function in healthy and dystrophic mice. Certain commercial electrodes and laboratory stimulators used for NMES in mice are no longer in production. We developed and/or tested low-
Bana H. Odeh, Amanda L. Wellman, Michael Ameye, Zachary Atwood, Luke Gray, Aiswarya Saravanan, Havish Poluru, Morium Begam, Takako I. Jones, Renuka Roche, Joseph A. Roche   +10 more
doaj   +1 more source

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

Indian Journal of Pathology and Microbiology, 2011
Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein.
N Gayathri, R Alefia, A Nalini, T C Yasha, M Anita, Vani Santosh, S K Shankar   +6 more
doaj   +1 more source

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism.

, 2005
Background: The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic disease, Miyoshi myopathy, both of which are characterised by an active muscle degeneration and regeneration process ...
CENACCHI, GIOVANNA, DE GIORGI LB, FANIN, MARINA, FANIN M, BADIALI DE GIORGI L, CENACCHI G, ANGELINI, CORRADO, ANGELINI C.   +7 more
core   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice

Journal of Lipid Research, 2019
Defects in the gene coding for dysferlin, a membrane-associated protein, affect many tissues, including skeletal muscles, with a resultant myopathy called dysferlinopathy.
Vanessa R. Haynes, Stacey N. Keenan, Jackie Bayliss, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 more
doaj   +1 more source

Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect

Molecular Genetics & Genomic Medicine, 2019
Background Dysferlinopathies are a group of autosomal recessive limb‐girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin.
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali   +5 more
doaj   +1 more source

Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials

, 2017
Background: The Jain Clinical Outcome Study (COS) is an international study of 203 adults with dysferlinopathy in 8 countries. Patients undergo six visits over three years, during which physiotherapy and medical assessments medical as well as muscle MRI ...
James, M, F.E. Smith, Fernandez-Torrón, R, Straub, V, R. Fernandez-Torrón, Llauger, J, Smith, FE, L. Rufibach, K. Bushby, Mayhew, A, M. James, V. Straub, Rufibach, L, J. Díaz-Manera, Bushby, K, J. Llauger, A. Mayhew, Díaz-Manera, J   +17 more
core   +1 more source

Patient-reported Clinical Care Experiences while Navigating the Progression of Dysferlinopathy (Limb-Girdle Muscular Dystrophy 2B/R2)

, 2022
Thesis (Master's)--University of Washington, 2022Dysferlinopathy is an ultra-rare, autosomal recessive form of limb-girdle muscular dystrophy (LGMD) with no existing treatments or disease-specific clinical care guidelines.
Emmons, Sarah Shira
core  

Diagnosis of Dysferlinopathies [PDF]

Open Access Journal of Neurology & Neurosurgery, 2019
openaire   +1 more source

Different Phenotypes in Dysferlinopathy

Internal Medicine, 2002
openaire   +3 more sources