Results 151 to 160 of about 2,881 (205)

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. [PDF]

Sci Rep, 2017
González-Jamett AM, Baez-Matus X, Olivares MJ, Hinostroza F, Guerra-Fernández MJ, Vasquez-Navarrete J, Bui MT, Guicheney P, Romero NB, Bevilacqua JA, Bitoun M, Caviedes P, Cárdenas AM.   +12 more
europepmc   +1 more source

Autosomal recessive centronuclear myopathy [PDF]

, 2020
openaire   +1 more source

Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. [PDF]

Mol Biol Cell, 2017
Collins MA, Mandigo TR, Camuglia JM, Vazquez GA, Anderson AJ, Hudson CH, Hanron JL, Folker ES.   +7 more
europepmc   +1 more source

[Retracted] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy. [PDF]

Mol Med Rep, 2016
Liu X, Wu H, Gong J, Wang T, Yan C.
europepmc   +1 more source

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. [PDF]

Am J Hum Genet, 2014
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.   +15 more
europepmc   +1 more source

Centronuclear myopathy: subgroup characterized by tissue mosaicism

Arquivos de Neuro-Psiquiatria, 1999
doaj  

Muscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle. [PDF]

Int J Mol Sci
Goret M, Piccolo G, Laporte J.
europepmc   +1 more source

Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies. [PDF]

Int J Mol Sci
Simon A, Gineste C, Reiss D, Thompson JD, Laporte J.   +4 more
europepmc   +1 more source

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

J Struct Biol, 2016
Hohendahl A, Roux A, Galli V.
europepmc   +1 more source

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Centronuclear ("Myotubular") Myopathy

Archives of Neurology, 1969
IN 1966 Spiro and co-workers1reported a 12-year-old boy with slowly progressive weakness from infancy who had unusual muscle fibers with centrally placed nuclei. Histochemical alterations in the central portions of the muscle fibers were noted. Because of similarities between these muscle fibers and the myotubular stage of embryogenesis, the authors ...
T L, Munsat, L R, Thompson, R F, Coleman
openaire   +2 more sources