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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2370, doi. 10.1093/hmg/ddp170
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- Publication type:
- Article
A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 251, doi. 10.1093/hmg/ddi441
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- Publication type:
- Article
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
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- Publication type:
- Article
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1068, doi. 10.1038/ng2082
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- Publication type:
- Article
The Development of Robust Antibodies to Sarcospan, a Dystrophin- and Integrin-Associated Protein, for Basic and Translational Research.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6121, doi. 10.3390/ijms25116121
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- Publication type:
- Article
Multi-omics analysis of sarcospan overexpression in mdx skeletal muscle reveals compensatory remodeling of cytoskeleton-matrix interactions that promote mechanotransduction pathways.
- Published in:
- Skeletal Muscle, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13395-022-00311-x
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- Publication type:
- Article
Sarcospan increases laminin-binding capacity of α-dystroglycan to ameliorate DMD independent of Galgt2.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 5, p. 718, doi. 10.1093/hmg/ddab276
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- Publication type:
- Article
Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
- Published in:
- Muscle & Nerve, 2008, v. 37, n. 3, p. 399, doi. 10.1002/mus.20904
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- Publication type:
- Article