Results 161 to 170 of about 6,430 (245)

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

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

Boldo Restores Vascularization and Reduces Skeletal Muscle Inflammation in Symptomatic Mice with Dysferlinopathy. [PDF]

Int J Mol Sci
Vásquez W, Troncoso F, Lira A, Escudero C, Sáez JC.   +4 more
europepmc   +1 more source

Gene-edited primary muscle stem cells rescue dysferlin-deficient muscular dystrophy

bioRxiv
H. Escobar, Silvia Di Francescantonio, Andreas Marg, Alexej Zhogov, Supriya Krishna, E. Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler   +9 more
semanticscholar   +1 more source

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]

Int J Genomics
Baghshomali S, Jebelli A, Kazemzadeh M, Jalalypour F, Yazdchi M, Mokhtarzadeh AA, Emrahi L.   +6 more
europepmc   +1 more source

Structural insights into lipid membrane binding by human ferlins. [PDF]

EMBO J
Cretu C, Chernev A, Kibédi Szabó CZ, Pena V, Urlaub H, Moser T, Preobraschenski J.   +6 more
europepmc   +1 more source

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report. [PDF]

Cureus
Ansari U, Dua A, Aneja E, Amani N, Muttalib Z, Lui F, Chima BS.   +6 more
europepmc   +1 more source

Versatile Microfluidics Platform for Enhanced Multitarget Super-Resolution Microscopy. [PDF]

ACS Nano
Basak S, Vu KC, Mougios N, Oleksiievets N, Pollack YG, Brandenburg S, Opazo F, Lehnart SE, Enderlein J, Tsukanov R.   +9 more
europepmc   +1 more source

Muscle-specific increased expression of <i>JAG1</i> improves the skeletal muscle phenotype in dystrophin-deficient mice. [PDF]

Proc Natl Acad Sci U S A
de Souza Leite F, Lambert MR, Zhang TY, Conner JR, Paulo JA, Oliveira SF, Guha Thakurta S, Bowles J, Gussoni E, Gygi SP, Widrick JJ, Kunkel LM.   +11 more
europepmc   +1 more source

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study [PDF]

, 2018
et al,, Harms, Matthew, Moore, Ursula R, Pestronk, Alan   +3 more
core   +1 more source