Results 101 to 110 of about 106,524 (297)

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene, Chamberlain, Jeffrey S, Darabi, Radbod, Ervasti, James M, Filareto, Antonio, Iacovino, Michelina, Kyba, Michael, Mayerhofer, Timothy, McIvor, R Scott, Parker, Sarah, Perlingeiro, Rita CR, Schaaf, Tory   +11 more
core   +2 more sources

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

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

Fat embolism syndrome in a child with muscular dystrophy of Duchenne type bilateral femur fracture. A rare association.

Revista de la Facultad de Medicina, 2007
It is high the frequency of femur fracture in children with Duchenne Muscular Dystrophy (DMD), with an incidence between 15 and 44%. The fatty embolism is presented in fractures of long bones generally associated to trauma of high energy or to extensive ...
Enrique Vergara Amador, Fernando Galván Villamarín, Marcela Piña Quintero   +2 more
doaj  

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. [PDF]

, 2015
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Manzur, AY, Mayhew, A, Mercuri, E, Muntoni, F, on behalf of UK NorthStar Clinical Network, ., Pane, M, Ricotti, V, Ridout, DA   +8 more
core   +1 more source

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

Long-term Evaluation of AAV-CRISPR Genome Editing for Duchenne Muscular Dystrophy

Nature Network Boston, 2018
Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therapeutic genome editing. There have been several recent reports of genome editing in preclinical models of Duchenne muscular dystrophy1–6, however, the long-term persistence
Christopher E. Nelson, Yaoying Wu, M. Gemberling, Matthew L. Oliver, Matthew A. Waller, Joel D Bohning, J. Robinson-Hamm, Karen Bulaklak, Ruth M. Castellanos Rivera, J. Collier, A. Asokan, C. Gersbach   +11 more
semanticscholar   +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

Integrated Modeling of Digital‐Motor and Clinician‐Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Robust and highly sensitive outcomes are crucial for small trials in rare diseases. Combining different outcome types might improve sensitivity to identify disease severity and progression, yet innovative methodologies are scarce. Here we develop an Item Response Theory framework that allows integrated modeling of both continuous and ...
Alzahra Hamdan, Andreas Traschütz, Lukas Beichert, Xiaomei Chen, Cynthia Gagnon, Bart P. van de Warrenburg, Filippo M. Santorelli, Nazlı Başak, Giulia Coarelli, Rita Horvath, Stephan Klebe, PROSPAX consortium, EVIDENCE‐RND consortium, Rebecca Schüle, Andrew C. Hooker, Matthis Synofzik, Mats O. Karlsson   +16 more
wiley   +1 more source

Challenges in the management of the child with Duchenne muscular dystrophy in a resource poor setting:a case report

The Pan African Medical Journal, 2014
Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens.
Kelechi Kenneth Odinaka, Emeka Charles Nwolisa   +1 more
doaj   +1 more source