Results 121 to 130 of about 2,813 (174)

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy. [PDF]

BMC Med Genomics
Nejati P, Falsafi N, Alimoradi E, Khosravi T, Kamari M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source

Multi-ancestry genome-wide association study of serum creatine kinase implicates myopathy genes and muscle pathways. [PDF]

EBioMedicine
Chen G, Zhao SS, Chinoy H, Lilleker JB, Liu W, Li Y, Morris AP, Lamb JA.   +7 more
europepmc   +1 more source

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2. [PDF]

J Cachexia Sarcopenia Muscle
White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V, Bernatchez P.   +21 more
europepmc   +1 more source

SORT LNPs encapsulating Cas9 mRNA achieve efficient editing in skeletal muscle in a dystrophic mouse model. [PDF]

Mol Ther
Iyer S, Daman K, Sun Y, Tutto A, Holbrook SE, Joynt AT, Yan J, Ambegaokar P, Guo D, Liu P, Stauffer JE, Maitland SA, Lee SM, Xiao Y, Huang HC, Zhu LJ, Gallagher TL, Cox GA, Keeler AM, Siegwart DJ, Emerson CP, Wolfe SA.   +21 more
europepmc   +1 more source

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +1 more source

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