The Muscle Tissue/Cell Culture/Diagnostics Core of the Iowa Wellstone Muscular Dystrophy Cooperative Research Center is a multifaceted laboratory that serves as a local, national and international resource for research on muscular dystrophy and other neuromuscular diseases. This Core has two major goals. Firstly, it has established and will expand a tissue and cell culture Repository to support basic and translational research efforts. Currently, this Repository contains muscle biopsies from more than 3500 patients with neuromuscular disorders, as well as cryopreserved fibroblasts from more than 300 patients with myopathic disease, predominantly muscular dystrophies. Well-characterized tissues and cells from the Core are made available to research investigators at Iowa as well as other academic centers across the USA and around the world. Secondly, the Core provides specialty diagnostic services that are not readily available through clinical laboratories, and facilitates research on and the development of new diagnostic tests for eventual transfer into clinical laboratories. These diagnostic services are very closely integrated with clinical laboratory testing carried out in the Department of Pathology at the University of Iowa. Together, Core B and the Department of Pathology services provide state-of-the-art diagnostic testing for patients seen at the University of Iowa Hospitals and Clinics, and for patients referred to Iowa from throughout the USA and from several other countries. This infrastructure provides key support for clinical trials of neuromuscular disease.
| 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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