Results 101 to 110 of about 32,083 (123)

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand? [PDF]

J Neuromuscul Dis
Faedo E, Tahiri I, Alimi C, Shoaito H, Severa G, Olivier S, Degove S, Richard I, Malfatti E.   +8 more
europepmc   +1 more source

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. [PDF]

BMC Musculoskelet Disord
Mao B, Cai X, Lin N, Jiang Y, Hao N, Dai Y, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L.   +14 more
europepmc   +1 more source

Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy. [PDF]

PLoS Genet
Flannery KP, Mowla S, Battula N, Clark LR, Oliveira CD, Simhon LM, Liu D, Venkatesan C, Karas BF, Terez KR, Burbano D, Manzini MC.   +11 more
europepmc   +1 more source

Polymerizing laminins in development, health, and disease. [PDF]

J Biol Chem
Yurchenco PD, Kulczyk AW.
europepmc   +1 more source

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. [PDF]

J Neuromuscul Dis
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O.   +30 more
europepmc   +1 more source

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Efficient LAMA1 Gene Activation by Epigenome Editing as a Therapeutic Approach for LAMA2-CMD

Human Gene Therapy
Epigenome editing technology holds great promise for treating diverse genetic disorders. In this study, we demonstrate epigenetic activation of the LAMA1 gene for the treatment of LAMA2 -CMD, a severe congenital muscle dystrophy (CMD) caused by ...
Yuanbo, Qin, Talha, Akbulut, Rajakumar, Mandraju, Keith, Connolly, John, Bechill, Farzaneh, Assadian, Claudia, Foster, Alison, Shottek, Seth, Levy, Jamie, Benoit, Tetsuya, Yamagata   +10 more
exaly   +3 more sources

Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy/dy mouse model by glatiramer acetate

Clinical Neurophysiology, 2019
Malcolm Rabie, Yoram Nevo, Nurit Yanay
exaly   +2 more sources

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies

Muscle and Nerve, 2015
INTRODUCTION: Muscular dystrophy caused by LAMA2-gene mutations is an autosomal recessive disease typically presenting as a severe, early-onset congenital muscular dystrophy (CMD).
John Vissing, Nicoline Løkken, Morten Duno   +2 more
exaly   +2 more sources

Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy2J/dy2J mouse model by glatiramer acetate.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2020
Glatiramer acetate (GA), an agent modulating the immune system, has been shown to cause significantly improved mobility and hind limb muscle strength in the dy2J/dy2J mouse model for LAMA2-congenital muscular dystrophy (LAMA2-CMD). In view of these findings and the prominent peripheral nervous system involvement in this laminin-α2 disorder we evaluated
Malcolm, Rabie, Nurit, Yanay, Yakov, Fellig, Jenya, Konikov-Rozenman, Yoram, Nevo   +4 more
openaire   +2 more sources