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Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 7, p. 377, doi. 10.1038/jhg.2009.44
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- Article
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
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- EMBO Journal, 2007, v. 26, n. 22, p. 4732, doi. 10.1038/sj.emboj.7601885
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- Article
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
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- Neurogenetics, 2006, v. 7, n. 3, p. 175, doi. 10.1007/s10048-006-0046-0
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- Article
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
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- Neurogenetics, 2004, v. 5, n. 4, p. 215, doi. 10.1007/s10048-004-0194-z
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- Article
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
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- Nature Genetics, 1999, v. 22, n. 2, p. 159, doi. 10.1038/9667
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- Article