Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The overall goal of this Muscular Dystrophy Cooperative Research Center is to explore therapeutic strategies for the treatment of various muscular dystrophies. The Center will achieve this overall goal by enabling translational research on muscular dystrophies and providing advanced diagnostic services. The MDCRC is composed of three research projects, three cores and investigators with a proven track record of excellence and collaboration. The Director and Co-director, Kevin Campbell and Steven Moore, are investigators with established records in basic, translational and clinical research on muscular dystrophy. Project 1 (Campbell and Barresi) will use mouse models to explore the therapeutic potential of improving muscle membrane maintenance and repair for the treatment of Duchenne muscular dystrophy. Project 2 (Mathews, Campbell, Weiss and Romitti) will study muscular dystrophy patients with fukutin related protein mutations and develop mouse models in order to understand the pathogenesis of this disease and possible therapeutic strategies. Project 3 (Yang, Williamson and Barresi) will study the development of embryonic stem cells as therapeutic tools for stem cell treatments. Core A (Campbell and Moore) is an administrative core which will coordinate the activities within and outside the Center and will promote an interactive and collaborative research environment. Core B (Moore and Barresi) is a Muscle Tissue/Cell Culture/Diagnostics Core that will serve as a national tissue and cell culture resource for research as well as a laboratory for patient diagnostic and post-intervention biopsy evaluation for clinical trials. Finally, Core C (Williamson and Yang), the Human ES Cell Targeting Core, will use gene targeting strategies to produce ES cell lines with specific muscular dystrophy mutations, and thus serve as a national resource of targeted stem cells.
| Lee, Angela J; Buckingham, Edward T; Kauer, Aaron J et al. (2018) Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy. J Child Neurol 33:572-579 |
| González Coraspe, José Andrés; Weis, Joachim; Anderson, Mary E et al. (2018) Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skelet Muscle 8:28 |
| Martinez-Thompson, Jennifer M; Niu, Zhiyv; Tracy, Jennifer A et al. (2018) Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. Muscle Nerve 57:679-683 |
| Brun, Brianna N; Willer, Tobias; Darbro, Benjamin W et al. (2018) Uniparental disomy unveils a novel recessive mutation in POMT2. Neuromuscul Disord 28:592-596 |
| Larson, Austin A; Baker 2nd, Peter R; Milev, Miroslav P et al. (2018) TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of ?-dystroglycan and muscular dystrophy. Skelet Muscle 8:17 |
| Carlson, Courtney R; Moore, Steven A; Mathews, Katherine D (2018) Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data. Muscle Nerve : |
| Brun, Brianna N; Mockler, Shelley R H; Laubscher, Katie M et al. (2017) Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology 88:623-629 |
| Carlson, Courtney R; McGaughey, Steven D; Eskuri, Jamie M et al. (2017) Illness-associated muscle weakness in dystroglycanopathies. Neurology 89:2374-2380 |
| Donkervoort, Sandra; Chan, Sophelia H S; Hayes, Leslie H et al. (2017) Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods. Neuromuscul Disord 27:531-536 |
| Wilson, Kristin; Faelan, Crystal; Patterson-Kane, Janet C et al. (2017) Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification. Toxicol Pathol 45:961-976 |
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