Works matching IS 13646745 AND DT 2007 AND VI 8 AND IP 1
Results: 11
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
- Published in:
- Neurogenetics, 2007, v. 8, n. 1, p. 39, doi. 10.1007/s10048-006-0062-0
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- Article
Pin1 levels are downregulated during ER stress in human neuroblastoma cells.
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- Neurogenetics, 2007, v. 8, n. 1, p. 21, doi. 10.1007/s10048-006-0060-2
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- Article
Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3.
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- 2007
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- Publication type:
- Letter
Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes.
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- Neurogenetics, 2007, v. 8, n. 1, p. 11, doi. 10.1007/s10048-006-0058-9
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- Article
A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease.
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- Neurogenetics, 2007, v. 8, n. 1, p. 57, doi. 10.1007/s10048-006-0065-x
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- Article
Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
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- Neurogenetics, 2007, v. 8, n. 1, p. 29, doi. 10.1007/s10048-006-0056-y
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- Article
Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis.
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- 2007
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- Publication type:
- Letter
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
- Published in:
- Neurogenetics, 2007, v. 8, n. 1, p. 45, doi. 10.1007/s10048-006-0067-8
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- Article
A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant.
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- Neurogenetics, 2007, v. 8, n. 1, p. 1, doi. 10.1007/s10048-006-0068-7
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- Article
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
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- Neurogenetics, 2007, v. 8, n. 1, p. 51, doi. 10.1007/s10048-006-0069-6
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- Article
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
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- 2007
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- Correction Notice