Works matching IS 13646745 AND DT 2010 AND VI 11 AND IP 2
Results: 16
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
- Published in:
- Neurogenetics, 2010, v. 11, n. 2, p. 241, doi. 10.1007/s10048-009-0220-2
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- Publication type:
- Article
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene.
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- Neurogenetics, 2010, v. 11, n. 2, p. 163, doi. 10.1007/s10048-009-0223-z
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- Article
Intratumoral patterns of clonal evolution in gliomas.
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- Neurogenetics, 2010, v. 11, n. 2, p. 227, doi. 10.1007/s10048-009-0217-x
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- Article
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
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- Neurogenetics, 2010, v. 11, n. 2, p. 203, doi. 10.1007/s10048-009-0215-z
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- Publication type:
- Article
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
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- Neurogenetics, 2010, v. 11, n. 2, p. 175, doi. 10.1007/s10048-009-0214-0
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- Article
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
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- Neurogenetics, 2010, v. 11, n. 2, p. 261, doi. 10.1007/s10048-009-0233-x
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- Article
X-linked CMT: genes and gene loci in an Australian cohort.
- Published in:
- 2010
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- Publication type:
- Letter
A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse.
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- Neurogenetics, 2010, v. 11, n. 2, p. 185, doi. 10.1007/s10048-009-0219-8
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- Publication type:
- Article
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
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- Neurogenetics, 2010, v. 11, n. 2, p. 251, doi. 10.1007/s10048-009-0224-y
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- Article
Suggestive evidence on chromosomes 2 and 19 for HTR1A-independent linkage of genes to major depression.
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- 2010
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- Publication type:
- Letter
Isolated eyelid closure myotonia in two families with sodium channel myotonia.
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- Neurogenetics, 2010, v. 11, n. 2, p. 257, doi. 10.1007/s10048-009-0225-x
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- Publication type:
- Article
Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.
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- Neurogenetics, 2010, v. 11, n. 2, p. 145, doi. 10.1007/s10048-009-0226-9
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- Publication type:
- Article
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.
- Published in:
- 2010
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- Publication type:
- Letter
The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection.
- Published in:
- Neurogenetics, 2010, v. 11, n. 2, p. 153, doi. 10.1007/s10048-009-0231-z
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- Publication type:
- Article
Broad clinical phenotypes associated with TAR-DNA binding protein ( TARDBP) mutations in amyotrophic lateral sclerosis.
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- Neurogenetics, 2010, v. 11, n. 2, p. 217, doi. 10.1007/s10048-009-0218-9
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- Publication type:
- Article
Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene ( ATXN3).
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- Neurogenetics, 2010, v. 11, n. 2, p. 193, doi. 10.1007/s10048-009-0216-y
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- Publication type:
- Article