Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 117, doi. 10.1007/s10048-010-0271-4
- By:
- Publication type:
- Article
Works matching IS 13646745 AND DT 2011 AND VI 12 AND IP 2
Results: 7
1
2
Investigating the genetics of visual processing, function and behaviour in zebrafish.
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 97, doi. 10.1007/s10048-011-0273-x
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- Publication type:
- Article
3
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 123, doi. 10.1007/s10048-010-0270-5
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- Publication type:
- Article
4
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 155, doi. 10.1007/s10048-011-0275-8
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- Publication type:
- Article
5
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
- Published in:
- 2011
- By:
- Publication type:
- Letter
6
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 137, doi. 10.1007/s10048-011-0274-9
- By:
- Publication type:
- Article
7
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.
- Published in:
- Neurogenetics, 2011, v. 12, n. 2, p. 145, doi. 10.1007/s10048-011-0276-7
- By:
- Publication type:
- Article