Results 101 to 110 of about 3,769 (195)

Dysferlin (DYSF) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome

bioRxiv, 2023
Isaac L. Scott, M. J. Dominguez, Adam Snow, Faraz M. Harsini, Justin Williams, K. Fuson, Roshan Thapa, Pushpak Bhattacharjee, G. Cornwall, Peter A. Keyel, R. Sutton   +10 more
semanticscholar   +1 more source

Dysferlin (DYSF); proteasome [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source

Improved Genotyping Of The Dysferlin Null Mouse

, 2015
The dysferlin-null mouse line that we generated has been an invaluable tool for exploring the function of dysferlin and studying the pathogenesis of dysferlin-deficient muscular dystrophy (1-3). The complete absence of dysferlin protein in this mouse model has been demonstrated by both Western blot and immunofluorescence analyses of skeletal muscle and
openaire   +2 more sources

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

<i>DYSF </i>gene variant spectrum in Arab populations across eight countries: A systematic review. [PDF]

Biomol Biomed
Smaili F, Zerrouki K, Aouni FE, Tajir M.
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

The fungal peptide toxin candidalysin induces distinct membrane repair mechanisms compared to bacterial pore-forming toxins. [PDF]

Cell Death Discov
Thapa R, Kayejo V, Lyon CM, Hube B, Naglik JR, Keyel PA.   +5 more
europepmc   +2 more sources

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

Muscles
Odeh BH, Wellman AL, Ameye M, Atwood Z, Gray L, Saravanan A, Poluru H, Begam M, Jones TI, Roche R, Roche JA.   +10 more
europepmc   +1 more source