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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1994 | 1 |
1999 | 1 |
2002 | 1 |
2005 | 1 |
2008 | 1 |
2011 | 1 |
2012 | 1 |
2014 | 1 |
2024 | 0 |
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7 results
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Page 1
Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes.
Cell Calcium. 2014 Oct;56(4):269-75. doi: 10.1016/j.ceca.2014.08.001. Epub 2014 Aug 10.
Cell Calcium. 2014.
PMID: 25171807
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
Wahbi K, Béhin A, Charron P, Dunand M, Richard P, Meune C, Vicart P, Laforêt P, Stojkovic T, Bécane HM, Kuntzer T, Duboc D.
Wahbi K, et al.
Neuromuscul Disord. 2012 Mar;22(3):211-8. doi: 10.1016/j.nmd.2011.10.019. Epub 2011 Dec 5.
Neuromuscul Disord. 2012.
PMID: 22153487
Free article.
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Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.
Carlsson L, Fischer C, Sjöberg G, Robson RM, Sejersen T, Thornell LE.
Carlsson L, et al.
Acta Neuropathol. 2002 Nov;104(5):493-504. doi: 10.1007/s00401-002-0583-z. Epub 2002 Jul 3.
Acta Neuropathol. 2002.
PMID: 12410397
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Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria.
Kostareva A, Sjöberg G, Bruton J, Zhang SJ, Balogh J, Gudkova A, Hedberg B, Edström L, Westerblad H, Sejersen T.
Kostareva A, et al.
J Muscle Res Cell Motil. 2008;29(1):25-36. doi: 10.1007/s10974-008-9139-8. Epub 2008 Jun 19.
J Muscle Res Cell Motil. 2008.
PMID: 18563598
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Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.
Bär H, Mücke N, Kostareva A, Sjöberg G, Aebi U, Herrmann H.
Bär H, et al.
Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15099-104. doi: 10.1073/pnas.0504568102. Epub 2005 Oct 10.
Proc Natl Acad Sci U S A. 2005.
PMID: 16217025
Free PMC article.
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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T.
Sjöberg G, et al.
Hum Mol Genet. 1999 Nov;8(12):2191-8. doi: 10.1093/hmg/8.12.2191.
Hum Mol Genet. 1999.
PMID: 10545598
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Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.
Horowitz SH, Schmalbruch H.
Horowitz SH, et al.
Muscle Nerve. 1994 Feb;17(2):151-60. doi: 10.1002/mus.880170204.
Muscle Nerve. 1994.
PMID: 8114783
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