Works matching IS 13646745 AND DT 2006 AND VI 7 AND IP 1
Results: 9
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis.
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- Neurogenetics, 2006, v. 7, n. 1, p. 39, doi. 10.1007/s10048-005-0014-0
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- Article
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
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- Neurogenetics, 2006, v. 7, n. 1, p. 51, doi. 10.1007/s10048-005-0015-z
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- Article
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.
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- Neurogenetics, 2006, v. 7, n. 1, p. 13, doi. 10.1007/s10048-005-0017-x
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- Article
Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson’s disease.
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- Neurogenetics, 2006, v. 7, n. 1, p. 1, doi. 10.1007/s10048-005-0020-2
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- Article
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease.
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- Neurogenetics, 2006, v. 7, n. 1, p. 27, doi. 10.1007/s10048-005-0023-z
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- Article
Death of neuronal clusters contributes to variance of age at onset in Huntington’s disease.
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- Neurogenetics, 2006, v. 7, n. 1, p. 21, doi. 10.1007/s10048-005-0025-x
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- Article
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1.
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- Neurogenetics, 2006, v. 7, n. 1, p. 31, doi. 10.1007/s10048-005-0021-1
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- Article
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.
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- Neurogenetics, 2006, v. 7, n. 1, p. 59, doi. 10.1007/s10048-005-0026-9
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- Article
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.
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- Neurogenetics, 2006, v. 7, n. 1, p. 47, doi. 10.1007/s10048-005-0027-8
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- Article