Results 121 to 130 of about 169,015 (342)

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Orphanet Journal of Rare Diseases, 2017
Background Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub   +16 more
doaj   +1 more source

RIBOSURIA IN MUSCULAR DYSTROPHY [PDF]

, 1953
W.B. Matthews, M. J. H. Smith
openalex   +1 more source

Exploring the Potential and Advancements of Circular RNA Therapeutics

Exploration, EarlyView.
Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang, Lianqing Wang, Chunbo Dong, Jialong Liu, Guoxin Cui, Shan Gao, Zhida Liu   +6 more
wiley   +1 more source

PROGRESSIVE MUSCULAR DYSTROPHIES [PDF]

, 1889
NULL AUTHOR_ID
openalex   +1 more source

A CASE OF MUSCULAR DYSTROPHY [PDF]

The Journal of Nervous and Mental Disease, 1901
n ...
openaire   +3 more sources

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source

Progressive Muscular Atrophy Associated with Primary Muscular Dystrophy in the Second Generation [PDF]

, 1913
Arthur F. Hertz, Wendy Johnson
openalex   +1 more source

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V, Betts, C A, Gait, M J, Godfrey, C, Hammond, S M, Healicon, R, Manzano, R, McClorey, G, Merritt, T M, Muses, S, O'Donovan, L, Tyler, D, Wells, D J, Wells, K E, Westering, T, Wood, M J   +15 more
core   +2 more sources

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source