Results 121 to 130 of about 4,001 (193)

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

<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

Dysferlin Protein-Protein Interaction Pathways in the Organ of Corti and Spiral Ganglion Intersect with Alzheimer's Protein Pathways. [PDF]

Int J Mol Sci
Drescher MJ, Drescher DG, Khan KM, Hatfield JS, Hemani D.   +4 more
europepmc   +1 more source

Impaired myogenesis in limb girdle muscular dystrophy type 2B. [PDF]

Sci Rep
Souza LS, Ishiba R, Ribeiro-Junior AF, Zogbi IA, Bouragba D, Bigot A, Mouly V, Vainzof M.   +7 more
europepmc   +1 more source

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source

Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy. [PDF]

Neurol Neuroimmunol Neuroinflamm
Kang S, Wang Q, Lv H, Deng J, Zhang W, Lu X, Yuan Y, Wang Z, Zheng F, Yu M.   +9 more
europepmc   +1 more source

Dysferlin protein analysis in limb-girdle muscular dystrophies

Dysferlin is the protein product of the DYSF gene mapped at 2p31, which mutations cause limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy.
McNally EM, Vainzof M, Valle G, Moreira ES, Faulkner G, Passos-Bueno MR, Zatz M, Anderson LVB, Pavanello RCM, Davis DB   +9 more
core  

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

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review. [PDF]

BMC Pediatr
Bardakov SN, Emelin AM, Nikitin SS, Suslov VМ, Dmitrochenko IV, Kovalevskaya IS, Korzun PR, Yakovlev IA, Isaev АА, Deev RV.   +9 more
europepmc   +1 more source

Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers. [PDF]

Respir Res
Nyberg F, Lundmark P, Blomberg A, Dekkers K, Egesten A, Eriksson Ström J, Gigante B, Gummesson A, Gunnarsson C, Janson C, Malinovschi A, Olin AC, Orho-Melander M, Persson HL, Pesonen I, Sköld M, Söderberg S, Tanash H, Vanfleteren LEGW, Fall T.   +19 more
europepmc   +1 more source