Results 171 to 180 of about 3,092 (251)

AAV-mediated gene transfer of a novel microdystrophin ameliorates pathology and enhances muscle function in a mouse model of DMD. [PDF]

Mol Ther Nucleic Acids
Owusu L, Kim S, Patel H, Foltz S, Chan GNY, Kim KH, Kopen A, Yang L, Lawlor MW, Buss N, Cunningham JJ, Liu Y, Danos O, Fiscella M.   +13 more
europepmc   +1 more source

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype [PDF]

, 2015
Hsiang-Hung Shih, Ichizo Nishino, Megumu Ogawa, Michael Sacher, Satomi Mitsuhashi, Satoru Noguchi, Wen-Chen Liang, Wenhua Zhu, Yuh-Jyh Jong   +8 more
core   +1 more source

Identification of LAMA2 compound heterozygous variants: a case report. [PDF]

Transl Pediatr
Ying Y, Ye J, Shen J, Chen G, Jiang K.
europepmc   +1 more source

Sternohyoid Muscle Fatigue Properties of dy/dy Dystrophic Mice, an Animal Model of Merosin-Deficient Congenital Muscular Dystrophy [PDF]

, 2003
Erik van Lunteren, Michelle Moyer
openalex   +1 more source

XALQ MILLIY O'YINLARI MEROSINING TARBIYAVIY AHAMIYATI

Mazkur maqola mazmunida o‘zbek xalq pedagogikasi manbalaridan biri bo‘lgan xalq o‘yinlari, ularning tarbiyaviy ahamiyati, insoniyatning shakllanishi va rivojlanishidagi muhim o‘rni haqida so‘z yuritiladi.  Xalq o‘yinlarining yoshlarni jismoniy chiniqtirish, ijodiy faollik, tashabbuskorlik, tashkilotchilik ko‘nikmalarini rivojlantirish, barkamol shaxs ...
openaire   +2 more sources

Clinico-Radiological Diagnosis of Merosin Deficient Congenital Muscular Dystrophy- A Case Report

, 2020
Dr Pai Ashutosh A
openalex   +1 more source

Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin‐deficient congenital muscular dystrophy

, 2014
Raissa Coelho Andrade, Julián Nevado, Maria Angélica de Faria Domingues de Lima, Tânia Saad, Lúcia Moraes, Leila Chimelli, Pablo Lapunzina, Fernando Regla Vargas   +7 more
openalex   +2 more sources

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy. [PDF]

J Neuromuscul Dis
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein A, Swiss-Reg-NMD Group .   +14 more
europepmc   +1 more source

Commonalities and differences in muscular dystrophies : mechanisms and molecules involved in merosin-deficient congenital muscular dystrophy

, 2006
Markus A. Rüegg
openalex   +1 more source