Results 141 to 150 of about 2,881 (205)

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. [PDF]

Proc Natl Acad Sci U S A, 2018
Buono S, Ross JA, Tasfaout H, Levy Y, Kretz C, Tayefeh L, Matson J, Guo S, Kessler P, Monia BP, Bitoun M, Ochala J, Laporte J, Cowling BS.   +13 more
europepmc   +1 more source

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. [PDF]

Sci Rep, 2019
Fongy A, Falcone S, Lainé J, Prudhon B, Martins-Bach A, Bitoun M.   +5 more
europepmc   +1 more source

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. [PDF]

Neurology, 2018
Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.   +21 more
europepmc   +1 more source

X-Linked Centronuclear Myopathy [PDF]

, 2020
openaire   +3 more sources

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. [PDF]

Acta Neuropathol Commun, 2018
Wang H, Schänzer A, Kampschulte B, Daimagüler HS, Logeswaran T, Schlierbach H, Petzinger J, Ehrhardt H, Hahn A, Cirak S.   +9 more
europepmc   +1 more source

Autosomal dominant centronuclear myopathy [PDF]

, 2020
openaire   +1 more source

Suspected congenital centronuclear myopathy in an Arabian-cross foal. [PDF]

J Vet Intern Med, 2014
Polle F, Andrews FM, Gillon T, Eades SC, McConnico RS, Strain GM, Valberg SJ, Guo LT, Shelton GD.   +8 more
europepmc   +1 more source

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. [PDF]

Biol Open, 2016
Fraysse B, Guicheney P, Bitoun M.
europepmc   +1 more source

Germline mutations in are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome [PDF]

core   +1 more source

Dynamin 2 the rescue for centronuclear myopathy. [PDF]

J Clin Invest, 2014
Demonbreun AR, McNally EM.
europepmc   +1 more source