Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?
L Bello, EP Hoffman, E Pegoraro - Nature Reviews Neurology, 2023 - nature.com
… reviews genetic modifier studies in DMD to date and discusses the effect of genetic modifiers
on … (inclusion of genotype-stratified subgroup analyses) and therapeutic approaches. The …
on … (inclusion of genotype-stratified subgroup analyses) and therapeutic approaches. The …
[HTML][HTML] Genetic modifiers and phenotype of Duchenne muscular dystrophy: a systematic review and meta-analysis
C Pascual-Morena, I Cavero-Redondo, A Saz-Lara… - Pharmaceuticals, 2021 - mdpi.com
… muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association
of genetic … ) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of …
of genetic … ) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of …
[HTML][HTML] Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies
EP Hoffman - Acta Myologica, 2020 - ncbi.nlm.nih.gov
… genetic modifiers in DMD suggests that the ‘effect size’ of the … Effect size of genetic modifiers
can be quantitated in DMD by … Genetic modifiers to date all show about 1-2 years change in …
can be quantitated in DMD by … Genetic modifiers to date all show about 1-2 years change in …
Duchenne muscular dystrophy: an updated review of common available therapies
… Background and purpose: Duchenne muscular dystrophy (DMD) is a lethal progressive …
on the recent gene therapies for DMD that aim to compensate for dystrophin deficiency and the …
on the recent gene therapies for DMD that aim to compensate for dystrophin deficiency and the …
Genetic modifiers of D uchenne and facioscapulohumeral muscular dystrophies
RM Hightower, MS Alexander - Muscle & nerve, 2018 - Wiley Online Library
… (mdx) mice, have yielded valuable genetic modifiers of disease pathology.32 This Review
… consequences of genetic modifiers in the 2 most prevalent forms of muscular dystrophy in …
… consequences of genetic modifiers in the 2 most prevalent forms of muscular dystrophy in …
Current and emerging treatment strategies for Duchenne muscular dystrophy
JK Mah - Neuropsychiatric disease and treatment, 2016 - Taylor & Francis
… variable phenotype known as Becker muscular dystrophy or X-linked … by other genetic modifiers
distinct from the DMD gene, … binding protein 4 (LBP4) gene and osteopontin, encoded by …
distinct from the DMD gene, … binding protein 4 (LBP4) gene and osteopontin, encoded by …
[HTML][HTML] Mutation-based therapeutic strategies for Duchenne muscular dystrophy: from genetic diagnosis to therapy
A Nakamura - Journal of personalized medicine, 2019 - mdpi.com
… In this paper, I present the significance of molecular diagnosis and the development of
mutation-based therapeutic strategies to complement or restore dystrophin expression. …
mutation-based therapeutic strategies to complement or restore dystrophin expression. …
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
L Bello, G D'Angelo, M Villa, A Fusto… - Annals of clinical …, 2020 - Wiley Online Library
… genes different from DMD, that may influence the pathological consequences of dystrophin
… Here we aimed at describing the natural history of, and effect of GC treatment on respiratory …
… Here we aimed at describing the natural history of, and effect of GC treatment on respiratory …
[HTML][HTML] Genetic modifiers of Duchenne muscular dystrophy in Chinese patients
M Chen, L Wang, Y Li, Y Chen, H Zhang, Y Zhu… - Frontiers in …, 2020 - frontiersin.org
… of GCs treatment, which is worth further discussing considering GCs has … genetic modifier
of the long-term effect of GCs treatment in Chinese patients with Duchenne muscular dystrophy…
of the long-term effect of GCs treatment in Chinese patients with Duchenne muscular dystrophy…
[HTML][HTML] Outside in: the matrix as a modifier of muscular dystrophy
… This study identified, among others, latent TGFβ binding protein 4 (LTBP4) as genetic modifier
of muscular dystrophy. Osteopontin, Jagged1, and LTBP4 act as extracellular mediators of …
of muscular dystrophy. Osteopontin, Jagged1, and LTBP4 act as extracellular mediators of …