Results 151 to 160 of about 182,997 (357)

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

Muscle &Nerve, EarlyView.
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

MUSCULAR DYSTROPHY [PDF]

, 1958
i Gailan
openalex   +1 more source

Protein Target Highlights in CASP16: Insights From the Structure Providers

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT This article presents an in‐depth analysis of selected CASP16 targets, with a focus on their biological and functional significance. The authors highlight the most relevant features of the target proteins and discuss how well these were reproduced in the submitted predictions.
Leila T. Alexander, Océane M. Follonier, Andriy Kryshtafovych, Kim Abesamis, Sabrina Bibi‐Triki, Henry G. Box, Cécile Breyton, Françoise Bringel, Loic Carrique, Alessio d'Acapito, Gang Dong, Rebecca DuBois, Deborah Fass, Juliana Martinez Fiesco, Daniel R. Fox, Jonathan M. Grimes, Rhys Grinter, Matthew Jenkins, Roman Kamyshinsky, Jeremy R. Keown, Gerald Lackner, Michael Lammers, Shiheng Liu, Andrew L. Lovering, Tomas Malinauskas, Benoît Masquida, Gottfried J. Palm, Christian Siebold, Tiantian Su, Ping Zhang, Z. Hong Zhou, Krzysztof Fidelis, Maya Topf, John Moult, Torsten Schwede   +34 more
wiley   +1 more source

Multiplex Ligation Dependent Probe Amplification Based Mutation Analysis of Dystrophin Gene in Nepalese Patients with Duchenne Muscular Dystrophy

Nepal Journal of Biotechnology, 2016
Duchenne muscular dystrophy (DMD) is X-linked recessive neuromuscular disorders caused due to mutation in dystrophin gene, leading to progressive muscle weakness.
Kushal Shrestha, Smita Shrestha, Saroj Khatiwada, Bishu Acharya, Sulochana Manandhar, Rohit Kumar Pokharel   +5 more
doaj   +1 more source

A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. [PDF]

, 2001
Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology.
Spencer, MJ, Tidball, JG, Wehling, M
core  

A model‐informed clinical trial simulation tool with a graphical user interface for Duchenne muscular dystrophy

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Quantitative model‐based clinical trial simulation tools play a critical role in informing study designs through simulation before actual execution. These tools help drug developers explore various trial scenarios in silico to select a clinical trial design to detect therapeutic effects more efficiently, therefore reducing time, expense, and ...
Jongjin Kim, Juan Francisco Morales, Sanghoon Kang, Marian Klose, Rebecca J. Willcocks, Michael J. Daniels, Ramona Belfiore‐Oshan, Glenn A. Walter, William D. Rooney, Krista Vandenborne, Sarah Kim   +10 more
wiley   +1 more source

Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol

Orphanet Journal of Rare Diseases
Introduction Neuromuscular diseases (NMDs) are rare multisystem, genetic or acquired disorders causing weakness and/or sensory loss. It is essential for governments, insurance providers, and broader society to have a better understanding of the burden of
Ian C. Smith, Yasmin Abusetah, Homira Osman, Aditi Garg, Alyssa Grant, Hanns Lochmuller, Hugh McMillan, Gerald Pfeffer, Lawrence Korngut, Cynthia Gagnon, Stacey Lintern, Daria Wojtal, Kathy Selby, Kednapa Thavorn, Jodi Warman-Chardon   +14 more
doaj   +1 more source

Clinical and pathological study of a case of congenital muscular dystrophy [PDF]

, 1966
S. S. Gubbay, J. N. Walton, G. W. Pearce
openalex   +1 more source

A computational tool to optimize clinical trial parameter selection in Duchenne muscular dystrophy: A practical guide and case studies

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Abstract Duchenne muscular dystrophy (DMD), a rare pediatric disease, presents numerous challenges when designing clinical trials, mainly due to the scarcity of available trial participants and the heterogeneity of disease progression. A quantitative clinical trial simulator (CTS) has been developed based on previously published five disease ...
Jordan Wilk, Varun Aggarwal, Mike Pauley, Diane Corey, Daniela J. Conrado, Karthik Lingineni, Juan Francisco Morales, Deok Yong Yoon, Yi Zhang, Zihan Cui, Jackson Burton, Jane Larkindale, Shu Chin Ma, Collin Hovinga, Terina Martinez, Klaus Romero, Ramona Belfiore‐Oshan, Sarah Kim, the Duchenne Regulatory Science Consortium (D‐RSC) and the CINRG DNHS investigators   +18 more
wiley   +1 more source

Optimized genomic editing of a common Duchenne muscular dystrophy mutation in patient-derived muscle cells and a new humanized mouse model

Molecular Therapy: Nucleic Acids
Duchenne muscular dystrophy (DMD) is a fatal X-linked, recessive disease caused by mutations in the DMD gene encoding dystrophin, a membrane-associated protein necessary for maintaining muscle structure and function.
Mateusz Z. Durbacz, Yu Zhang, Hui Li, Takahiko Nishiyama, Efrain Sanchez- Ortiz, John R. McAnally, Damir Alzhanov, Ning Liu, Eric N. Olson   +8 more
doaj   +1 more source