Results 31 to 40 of about 343,838 (345)

Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]

, 2016
Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua, McDermott, Suzanne, Reichard, Amanda, Royer, Julie, Ruttenber, Margaret, Smith, Michael G., Valdez, Rodolfo   +6 more
core   +3 more sources

AAV-based gene therapies for the muscular dystrophies.

Human Molecular Genetics, 2019
Muscular dystrophy is a group of progressive genetic diseases affecting the musculature which are characterized by inflammatory infiltrates, necrosis and connective tissue and fat replacement of the affected muscles.
J. Crudele, J. Chamberlain
semanticscholar   +1 more source

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]

, 2018
Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi, Escudero Cuadrado, Luis María, Fernández Simón, Esther, Gallardo, Eduard, Gómez Gálvez, Pedro, Piñol Jurado, Patricia, Suárez Calvet, Xavier   +6 more
core   +1 more source

Limb-Girdle Muscular Dystrophies

Pediatric Neurology Briefs, 2003
The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
doaj   +1 more source

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Neuromuscular Disorders, 2018
The 229th ENMC workshop entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden, The Netherlands.
V. Straub, A. Murphy, B. Udd, A. Corrado, S. Aymé, C. Bönneman, Marianne de Visser, A. Hamosh, Laura Jacobs, N. Khizanishvili, M. Kroneman, Pascal Laflorêt, A. Murphy, V. Nigro, L. Rufibach, A. Sarkozy, Shaun Swanepoel, Ivan Torrente, A. Urtizberea, J. Vissing, M. Walter   +20 more
semanticscholar   +1 more source

Redox Homeostasis in Muscular Dystrophies

Cells, 2021
In recent years, growing evidence has suggested a prominent role of oxidative stress in the pathophysiology of several early- and adult-onset muscle disorders, although effective antioxidant treatments are still lacking.
Nicola Mosca, Sara Petrillo, Sara Bortolani, Mauro Monforte, Enzo Ricci, Fiorella Piemonte, Giorgio Tasca   +6 more
doaj   +1 more source

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]

, 2003
Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C., Balci, B., Brockington, M., Dincel, D., Dincer, P., Gerceker, F. O., Haliloglu, G., Kale, G., Longman, C., Muntoni, F., Sue, B. B., Talim, B., Topaloglu, H., Torelli, S., Y. Yuva, Yakicier, C.   +15 more
core   +1 more source

Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering

Cell Reports, 2018
Summary Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including ...
S. Maffioletti, S. Sarcar, A. Henderson, I. Mannhardt, L. Pinton, L. Moyle, H. Steele-Stallard, O. Cappellari, K. Wells, G. Ferrari, Jamie S. Mitchell, Giulia E. Tyzack, Vassilios Kotiadis, M. Khedr, M. Ragazzi, Weixin Wang, M. Duchen, R. Patani, P. Zammit, D. Wells, T. Eschenhagen, Francesco Saverio Tedesco   +21 more
semanticscholar   +1 more source

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

International Journal of Endocrinology, 2012
Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Oriana del Rocío Cruz Guzmán, Ana Laura Chávez García, Maricela Rodríguez-Cruz   +2 more
doaj   +1 more source

Whole-genome sequencing and the clinician: a tale of two cities [PDF]

, 2014
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley, Dickens, Dubowitz, F. Muntoni, Foley, Gualandi, J. He, J. Kim, Jöbsis, Jöbsis, Kim, Lupski, M. G. Hanna, Mercuri, Mercuri, Morrow, N. M. Pearson, Pace, Pan, Phimister, R. D. S. Pitceathly, Straub   +21 more
core   +2 more sources