Found: 12
Select item for more details and to access through your institution.
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 306, doi. 10.1007/s00439-003-1057-7
- By:
- Publication type:
- Article
Inclusion body myositis with human immunodeficiency virus infection: Four cases with clonal expansion of viral‐specific T cells.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 5, p. 466, doi. 10.1002/ana.21103
- By:
- Publication type:
- Article
Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Myotilinopathy: refining the clinical and myopathological phenotype.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2315, doi. 10.1093/brain/awh576
- By:
- Publication type:
- Article
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
- By:
- Publication type:
- Article
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
- Published in:
- Acta Neuropathologica, 2005, v. 109, n. 4, p. 411, doi. 10.1007/s00401-005-0980-1
- By:
- Publication type:
- Article
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 143, doi. 10.1007/s00415-004-0289-3
- By:
- Publication type:
- Article
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 9, p. 2318, doi. 10.1093/brain/awl120
- By:
- Publication type:
- Article
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
- Published in:
- Human Mutation, 2007, v. 28, n. 4, p. 374, doi. 10.1002/humu.20459
- By:
- Publication type:
- Article
Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain.
- Published in:
- European Neurology, 2012, v. 68, n. 5, p. 279, doi. 10.1159/000341617
- By:
- Publication type:
- Article
The Impact of Long-Term Hypoxia on the Antioxidant Defense System in the Siberian Frog Rana amurensis.
- Published in:
- Biochemistry (00062979), 2024, v. 89, n. 3, p. 441, doi. 10.1134/S0006297924030052
- By:
- Publication type:
- Article
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal α-helical segment (This article is a US Government work and, as such, is in the public domain in the United States of America.).
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 6, p. 669, doi. 10.1002/mus.10370
- By:
- Publication type:
- Article