Results 111 to 120 of about 25,797 (180)

Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. [PDF]

Mol Ther Nucleic Acids, 2022
Trochet D, Prudhon B, Mekzine L, Lemaitre M, Beuvin M, Julien L, Benkhelifa-Ziyyat S, Bui MT, Romero N, Bitoun M.   +9 more
europepmc   +1 more source

Spinal Deformity in Congenital Myopathies

Indian Spine Journal
Congenital myopathy (CM) is a group of rare genetic disorders characterized by hypotonia, hyporeflexia, and weakness present at birth. The condition is estimated to affect between 0.7 and 4.4 per 100,000 children.
Thomas Coleman, Patrick J. Cahill
doaj   +1 more source

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. [PDF]

Orphanet J Rare Dis, 2021
Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L, NatHis-MTM Study Group.   +13 more
europepmc   +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

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

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

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights. [PDF]

Front Pediatr
Liao H, Jiang M, Zhong X, Luo X, Qiu H, Pan H, Gan J, Zhong S.   +7 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

NOTCH2 mutation in centronuclear myopathy: Beyond the scope. [PDF]

Mol Ther
Tehrani E, Asakura A.
europepmc   +1 more source