Results 261 to 270 of about 56,560 (289)

[Facioscapulohumeral muscular dystrophy (FSHD)].

Nihon rinsho. Japanese journal of clinical medicine, 1998
Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900) is one of the major forms of muscular dystrophy, and is inherited in an autosomal dominant fashion. In most patients with FSHD, deletion of 3.3 kb tandemly repeated units within the EcoRI fragment, as detected by p13E-11 (D4F104S1) on chromosome 4q35, is associated with the disease (FSHD1A or ...
M, Funakoshi, K, Goto, B Y, Kim, K, Arahata   +3 more
openaire   +1 more source

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

Journal of Neurology
S. Attarian, S. Beloribi-Djefaflia, Rafaëlle Bernard, Karine Nguyen, C. Cances, Carole Gavazza, A. Echaniz-Laguna, C. Espil, Teresinha Evangelista, Léonard Féasson, F. Audic, B. Zagorda, Virginie Milhe De Bovis, T. Stojkovic, G. Solé, E. Salort-Campana, S. Sacconi   +16 more
semanticscholar   +1 more source

Therapeutic approaches for Duchenne muscular dystrophy

Nature Reviews Drug Discovery, 2023
Thomas C Roberts, Kay E Davies
exaly  

Spinal muscular atrophy

Nature Reviews Disease Primers, 2022
Francesco Muntoni, Richard S Finkel
exaly  

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial

Lancet Neurology
R. Tawil, Kathryn Wagner, J. Hamel, Doris Leung, J. Statland, Leo Wang, A. Genge, Sabrina Sacconi, Hanns Lochmüller, D. Reyes-Leiva, J. Díaz-Manera, J. Alonso-Pérez, N. Muelas, J. J. Vílchez, Alan Pestronk, S. Gibson, Namita A. Goyal, Lawrence Hayward, Nicholas Johnson, S. Lorusso, M. Freimer, Perry B. Shieh, S. Subramony, B. V. Engelen, J. Kools, O. Leinhard, Per Widholm, Christopher Morabito, Christopher Moxham, Diego Cadavid, Michelle Mellion, A. Odueyungbo, W. Tracewell, Anthony Accorsi, L. Ronco, Robert Gould, J. Shoskes, L. A. Rojas, John Jiang   +38 more
semanticscholar   +1 more source

Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning

Journal of Neurology, 2021
M. Monforte, S. Bortolani, Eleonora Torchia, L. Cristiano, F. Laschena, T. Tartaglione, E. Ricci, G. Tasca   +7 more
semanticscholar   +1 more source

Facioscapulohumeral muscular dystrophy

Journal of Neurology, 2003
Miriam Butz, M. C. Koch, W. Muller-Felber, R. J. L. F. Lemmers, S. M. van der Maarel, H. Schreiber   +5 more
openaire   +1 more source

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

Nature Medicine, 2020
Alessandra Moretti, Daniel Sinnecker, Shicheng Sun   +2 more
exaly  

Facioscapulohumeral Muscular Dystrophy

American Journal of Physical Medicine & Rehabilitation, 1995
David D. Kilmer, Richard T. Abresch, Megan A. McCrory, Gregory T. Carter, William M. Fowler, E Ralph Johnson, Craig M. McDonald   +6 more
openaire   +1 more source

Induced pluripotent stem cells from a spinal muscular atrophy patient

Nature, 2008
Allison D Ebert, Christian L Lorson, Clive N Svendsen   +2 more
exaly