Results 121 to 130 of about 2,881 (205)

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy. [PDF]

J Biol Chem, 2021
Fujise K, Okubo M, Abe T, Yamada H, Nishino I, Noguchi S, Takei K, Takeda T.   +7 more
europepmc   +1 more source

Centronuclear myopathies [PDF]

, 2019
Orientador: Anamarli NucciTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: As miopatias centronuclear (MCN) e miotubular (MMT) são doenças musculares congênitas, estruturais e raras.
Rosa, Tatiana da Silva, 1984-
core  

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes. [PDF]

Mol Ther, 2022
Silva-Rojas R, Nattarayan V, Jaque-Fernandez F, Gomez-Oca R, Menuet A, Reiss D, Goret M, Messaddeq N, Lionello VM, Kretz C, Cowling BS, Jacquemond V, Laporte J.   +12 more
europepmc   +1 more source

La souris paraplégique : Un modèle offrant de nouvelles perspectives de recherche sur les lésions de la moelle épinière [PDF]

, 2006
Guertin, Pierre A., Lapointe, Nicolas P.
core   +1 more source

Centronuclear myopathy [PDF]

, 2020
openaire   +1 more source

Corrigendum: A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Frontiers in Neurology, 2022
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +1 more source

Novel SPEG variant cause centronuclear myopathy in China. [PDF]

J Clin Lab Anal, 2020
Tang J, Ma W, Chen Y, Jiang R, Zeng Q, Tan J, Jiang H, Li Q, Zhang VW, Wang J, Tang H, Luo L.   +11 more
europepmc   +1 more source

Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy. [PDF]

Brain
Moschovaki-Filippidou F, de Carvalho Neves J, Diedhiou N, Jad Y, Böhm J, Wood MJA, Varela MA, Laporte J.   +7 more
europepmc   +1 more source

Tamoxifen treatment fails to improve muscle dysfunction in a model of recessive RYR1-linked centronuclear myopathy. [PDF]

Dis Model Mech
Gineste C, Reiss D, Laporte J.
europepmc   +1 more source

A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia. [PDF]

Chin Med J (Engl), 2020
Huang X, Liu XY, Chen L, Sun AP, Zhang YS, Zheng DF, Zhong YF, Fan DS.   +7 more
europepmc   +1 more source