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] 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…
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] 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 …
Evaluating genetic modifiers of Duchenne muscular dystrophy disease progression using modeling and MRI
AM Barnard, DW Hammers, WT Triplett, S Kim… - Neurology, 2022 - AAN Enterprises
… the effects of dystrophin variations and genetic modifiers of DMD on rate and age of muscle
… of different genetic modifiers of disease progression in DMD on muscle fatty replacement. …
… of different genetic modifiers of disease progression in DMD on muscle fatty replacement. …
Cardiopulmonary phenotypic variability and discordance in Duchenne muscular dystrophy: implications for new therapies
DJ Birnkrant, JC Carter - Pediatric Pulmonology, 2021 - Wiley Online Library
… This line of inquiry raises the question: how might more effective DMD therapies be … at
genetic modifiers of dystrophin expression and how the therapeutic utilization of those modifiers is …
genetic modifiers of dystrophin expression and how the therapeutic utilization of those modifiers is …
[HTML][HTML] Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future
A Łoboda, J Dulak - Pharmacological Reports, 2020 - Springer
… muscles lack dystrophin, efficient gene therapy should allow the expression of a new dystrophin
gene not only in limb muscles but … The estimation of how much dystrophin is required to …
gene not only in limb muscles but … The estimation of how much dystrophin is required to …
Genetic modifiers and phenotypic variability in neuromuscular disorders
M Mroczek, MG Sanchez - Journal of applied genetics, 2020 - Springer
… DMD is an X-linked muscular dystrophy caused by mutations in the DMD gene. The disease
begins in childhood and the most common characteristics include calf pseudohypertrophy, …
begins in childhood and the most common characteristics include calf pseudohypertrophy, …
[HTML][HTML] Genetic modifiers of upper limb function in Duchenne muscular dystrophy
D Sabbatini, A Fusto, S Vianello, M Villa, J Janik… - Journal of …, 2022 - Springer
… Here, we aimed to verify if genetic modifiers of LoA in DMD, both cis- and trans-acting,
also affect the performance of the upper limbs measured with the PUL test. Moreover, all …
also affect the performance of the upper limbs measured with the PUL test. Moreover, all …