Results 81 to 90 of about 71,159 (294)

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

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]

, 1990
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
G. J. B. van Ommen, L. Blonden, M. Cremer, P. Vogt, T. Cremer, T. Ried, V. Mahler   +6 more
core   +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

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

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

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

Non-operative treatment for perforated gastro-duodenal peptic ulcer in Duchenne Muscular Dystrophy: a case report

BMC Surgery, 2004
Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan, Van Royen Barend J, Oddens Jorg R, Brinkman Justus-Martijn, Olsman Jan G   +4 more
doaj  

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]

, 2015
Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh, Bourke, John, Burghes, Arthur, Bushby, Kate, Buyse, Gunnar, Caizergues, Didier, Catlin, Nick, Clemens, Paula, Cnaan, Avital, Comi, Giacomo, Connor, Edward, Csimma, Cristina, Day, Simon, de Luca, Annamaria, de Montleau, Béatrice, de Visser, Marianne, Dittrich, Sven, Dubrosky, Alberto, Eagle, Michelle, Finkel, Richard, Fishbeck, Kenneth, Flanigan, Kevin M., Furlong, Patricia, Grounds, Miranda, Hauschke, Dieter, Heslop, Emma, Hesterlee, Sharon, Hoffman, Eric, Irwin, Joseph, Jarecki, Jill, Kaufmann, Petra, Kelly, Michael, Korinthenberg, Rudolf, Laforêt, Pascal, Larkindale, Jane, Lovering, Richard, Mayer, Henry, McCall, John, McDonald, Robert, McNally, Elizabeth, McNeil, Dawn Elizabeth, McNeil, Elizabeth, Mendell, Jerry, Miller, Debra, Nagaraju, Kanneboyina, North, Kathryn, Ouillade, Marie-Christine, Straub, Volker, Wagner, Kathryn R., Wells, Dominic J.   +49 more
core   +4 more sources

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