Results 121 to 130 of about 25,797 (180)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Acta Neuropathologica Communications, 2018
Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte   +9 more
doaj   +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

Understanding the role of NOTCH2 mutation in centronuclear myopathy. [PDF]

Mol Ther
Lin Y, Zhou H, Hu W, Gao B, Liang T, Qiu J, Li P, Que Y, Wong C, Qiu X, Deng Z, Shi H, Liu S, Chen J, Liao N, Chen Q, Li X, Liang A, Gao W, Huang D.   +19 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

Gene replacement therapy for centronuclear myopathy: A breakthrough in complex genetic muscle disease. [PDF]

Mol Ther
Takeda T.
europepmc   +1 more source

Mitochondrial alterations in dynamin 2-related centronuclear myopathy Alterações mitocondriais na miopatia centronuclear relacionadas a dinamina 2

Arquivos de Neuro-Psiquiatria, 2009
Edmar Zanoteli, Naja Vergani, Yvan Campos, Mariz Vainzof, Acary S.B. Oliveira, Alessandra d'Azzo   +5 more
doaj   +1 more source

BIN1 gene replacement reverses BIN1-related centronuclear myopathy. [PDF]

Mol Ther
Ji J, Giraud Q, Diedhiou N, Lipkow E, Spiegelhalter C, Laporte J.   +5 more
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

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study. [PDF]

J Neuromuscul Dis
Colombo S, Cowling BS, Eyler L, Nijkamp D, Freitag C, Thielemans L, Bouman K, Baets J, Vissing J, Quinlivan R, Guglieri M, Montagnese F, Schara-Schmidt U, Dhawan A, Lawlor MW, Voermans NC.   +15 more
europepmc   +1 more source

The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy. [PDF]

J Biol Chem, 2020
Chen X, Gao YQ, Zheng YY, Wang W, Wang P, Liang J, Zhao W, Tao T, Sun J, Wei L, Li Y, Zhou Y, Gan Z, Zhang X, Chen HQ, Zhu MS.   +15 more
europepmc   +1 more source