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Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells.
- Published in:
- Cell Death Discovery, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41420-019-0197-z
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- Article
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
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- Article
Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect.
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- Traffic, 2007, v. 8, n. 1, p. 77, doi. 10.1111/j.1600-0854.2006.00505.x
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- Article
Myopathy is a prominent feature in Marinesco-Sjögren syndrome.
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- Journal of Neurology, 2006, v. 253, n. 3, p. 301, doi. 10.1007/s00415-005-0983-9
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- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
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- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
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- Article
Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
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- Journal of Neurology, 2004, v. 251, n. 5, p. 556, doi. 10.1007/s00415-004-0363-x
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- Article
Dysferlin is a plasma membrane protein and is expressed early in human development.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 5, p. 855, doi. 10.1093/hmg/8.5.855
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- Article
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
- Published in:
- Nature Genetics, 1998, v. 20, n. 1, p. 37, doi. 10.1038/1689
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- Article
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 455
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- Article