Results 121 to 130 of about 1,979 (203)

Different Phenotypes in Dysferlinopathy

Internal Medicine, 2002
openaire   +3 more sources

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

RNA-based therapies for dysferlinopathies

, 2015
Das cis-Spleißen von präkursor-mRNA (prä-mRNA) ist ein geeigneter Angriffspunkt für die Korrektur von Genen, deren Transkriptionsregulation, wie im Fall des dysferlin (DYSF) Gens, ausschlaggebend für die Funktionalität des enkodierten Proteins ist.
openaire   +1 more source

Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy. [PDF]

Neurol Neuroimmunol Neuroinflamm
Kang S, Wang Q, Lv H, Deng J, Zhang W, Lu X, Yuan Y, Wang Z, Zheng F, Yu M.   +9 more
europepmc   +1 more source

Muscle RING finger-1 facilitates skeletal muscle regeneration via regulating myoblast proliferation and differentiation. [PDF]

J Transl Med
Yang M, Ji S, Gao H, Ge H, Han X, Zhan J, Zhang Q, Xu L, Li Y, Tang Z, Bu B.   +10 more
europepmc   +1 more source

GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice [PDF]

, 2015

core   +1 more source

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source

Boldo Restores Vascularization and Reduces Skeletal Muscle Inflammation in Symptomatic Mice with Dysferlinopathy. [PDF]

Int J Mol Sci
Vásquez W, Troncoso F, Lira A, Escudero C, Sáez JC.   +4 more
europepmc   +1 more source

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. [PDF]

Orphanet J Rare Dis, 2023
Lin F, Yang K, Lin X, Jin M, Chen L, Zheng FZ, Qiu LL, Ye ZX, Chen HZ, Lin MT, Wang N, Wang ZQ.   +11 more
europepmc   +1 more source