Results 201 to 210 of about 114,439 (345)

Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls [PDF]

Joel Iff, Nicolae Done, Edward Tuttle, Yi Zhong, Fangzhou Wei, Basil T. Darras, Craig M. McDonald, Eugenio Mercuri, Francesco Muntoni   +8 more
openalex   +1 more source

Caregiver Perceptions and quality of life in adolescents with Duchenne Muscular Dystrophy [PDF]

, 2018
J. Stone
openalex  

Enhanced expression of the P2X4 receptor in Duchenne muscular dystrophy correlates with macrophage invasion

, 2004
Davy Yeung, Riddhi Kharidia, S. Brown, Dariusz C. Górecki   +3 more
openalex   +2 more sources

Beyond the Curve: The Muscle‐Specific Asymmetries of Adolescent Idiopathic Scoliosis

JOR SPINE, Volume 8, Issue 4, December 2025.
Asymmetries in paraspinal muscle volume, intramuscular fat, and fat‐free muscle, observed across 11 vertebral levels, were greater in Adolescents with Idiopathic Scoliois (AIS) than in typically developing controls. Muscle asymmetries follow the shape of the scoliotic curve, typically with greater muscle volumes and intramuscular fat on the concave ...
Phoebe Duncombe, Taylor Dick, Phoebe T. T. Ng, Maree T. Izatt, Robert D. Labrom, Kylie Tucker   +5 more
wiley   +1 more source

Ataluren‐Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations

MedComm, Volume 6, Issue 12, December 2025.
The therapeutic potential of ataluren for NF1 nonsense mutations was assessed by a comprehensive evaluation of the RAS/MEK/ERK pathway activity in 22 NF1NS/+ patient‐derived fibroblasts. The whole‐transcriptomic profiles between ataluren responders and nonresponders, and further analysis and validation revealed novel biomarkers, AMPD3 and TGFBR3, for ...
Soyoung Kim, Hyosang Do, Sun Hee Heo, Minji Kang, Soojin Hwang, Dohyung Kim, Min‐Hoo Chang, Kyung Kim, Beom Hee Lee   +8 more
wiley   +1 more source

Duchenne Muscular Dystrophy: Integrating Current Clinical Practice with Future Therapeutic and Diagnostic Horizons [PDF]

Costanza Montagna, Emiliano Maiani, Luisa Pieroni, Silvia Consalvi   +3 more
openalex   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

MedComm, Volume 6, Issue 12, December 2025.
Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source

Correction: Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy. [PDF]

PLoS One
Beekman C, Janson AA, Baghat A, van Deutekom JC, Datson NA.   +4 more
europepmc   +1 more source

Feasibility of a Home‐Based Exergaming Intervention for Youth With Spinal Muscular Atrophy

Muscle &Nerve, Volume 72, Issue 6, Page 1259-1264, December 2025.
ABSTRACT Introduction/Aims Approaches to optimize physical activity in youth with spinal muscular atrophy (SMA) are rapidly evolving. The primary objective of this study was to assess the feasibility of a fit‐for‐purpose home‐based exergaming intervention in children and youth with SMA and peer controls.
Ihsane Iraqi, Pamela Ng, Xing Chen, Niamh Cushen, Juergen Gottowik, David Herzig, Shaainthabie Karthigesu, Danielle Levac, Alex MacKenzie, Jean K. Mah, Slawomir Opalka, Beth Potter, Kathryn Selby, Jordan Sheriko, Maureen Smith, Sarah Turgeon‐Desilets, Angelina Woof, Maryam Oskoui   +17 more
wiley   +1 more source

Exploring the evidence for the use of protein biomarkers of muscular damage and disease progression in Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis protocol. [PDF]

BMJ Open
Mondello S, McGill A, Lu A, Spitali P, Russell AJ, Belfiore-Oshan R, Martin PB, Duchenne Regulatory Science Consortium.   +7 more
europepmc   +1 more source