Found: 14
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1
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- Article
Phosphoinositide substrates of myotubularin affect voltage-activated Ca release in skeletal muscle.
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- Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 5, p. 973, doi. 10.1007/s00424-013-1346-5
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- Article
Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1856, doi. 10.1093/hmg/ddt038
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- Article
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1525, doi. 10.1093/hmg/ddt003
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- Article
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 811, doi. 10.1093/hmg/ddr512
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- Article
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2132, doi. 10.1093/hmg/ddn112
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- Article
Corrigendum: Cxorf6 is a causative gene for hypospadias.
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- 2007
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- Correction notice
CXorf6 is a causative gene for hypospadias.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1369, doi. 10.1038/ng1900
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- Publication type:
- Article
Neurturin responsiveness requires a GP1-linked receptor and the Ret receptor tyrosine kinase.
- Published in:
- Nature, 1997, v. 387, n. 6634, p. 721, doi. 10.1038/42729
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- Article
MTM1 mutations in X-linked myotubular myopathy.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R
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- Article
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
- Published in:
- Human Mutation, 1999, v. 14, n. 4, p. 320, doi. 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O
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- Publication type:
- Article
Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 4, p. 607, doi. 10.1002/mus.24294
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- Publication type:
- Article
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 19, p. 2297, doi. 10.1093/hmg/11.19.2297
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- Article
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1703, doi. 10.1093/hmg/7.11.1703
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- Publication type:
- Article