Results 111 to 120 of about 841 (164)

Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies. [PDF]

Inflamm Regen
Abdelrehim FG, Sadek Z, Fahim SA, El-Ekiaby N, Abdelaziz AI, Fawzy IO.   +5 more
europepmc   +1 more source

Engineered mischarged transfer RNAs for correcting pathogenic missense mutations. [PDF]

Mol Ther
Hou Y, Zhang W, McGilvray PT, Sobczyk M, Wang T, Weng SHS, Huff A, Huang S, Pena N, Katanski CD, Pan T.   +10 more
europepmc   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

LGMD. Identification, description and classification. [PDF]

Acta Myol, 2020
Angelini C.
europepmc   +1 more source

Treatabolome for finely targeting muscle pathology in LGMD. [PDF]

Acta Myol
Angelini C.
europepmc   +1 more source

NF-κB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting.
Bourg N, Raynaud F, Lajmanovich A, Gicquel E, Lochmuller H, Bartoli M, Lefranc G, Daniele N, Baghdiguian S, Pasquier M-A, Richard I, Suel L, Benayoun B   +12 more
core  

Cell therapy for Duchenne muscular dystrophy: promises, challenges, and controversies. [PDF]

Cell Mol Life Sci
Łoboda A, Dulak J.
europepmc   +1 more source

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. [PDF]

Orphanet J Rare Dis, 2020
Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC.   +9 more
europepmc   +1 more source

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. [PDF]

Postep Psychiatr Neurol
Radziwonik-Frączyk W, Elert-Dobkowska E, Kubalska J, Stępniak I, Lipowska M, Potulska-Chromik A, Sułek A.   +6 more
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source