Results 111 to 120 of about 3,769 (195)

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

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

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

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

Improved genotyping of the dysferlin null mouse [PDF]

Protocol Exchange, 2011
Kevin Campbell, Renzhi Han, Kazuhiro Kobuke, Mary Anderson, Daniel Beltrán-Valero de Bernabé, Yvonne Kobayashi, Baoli Yang, Kevin Campbell   +7 more
openaire   +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

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

DNM2 lipid binding drives centronuclear myopathy and represents a potential therapeutic target. [PDF]

JCI Insight
Gómez-Oca R, Massana-Muñoz X, Reiss D, De Carvalho Neves J, Diedhiou N, Silva-Rojas R, Cowling BS, Goret M, Laporte J.   +8 more
europepmc   +1 more source