Works matching IS 13646745 AND DT 2014 AND VI 15 AND IP 2
Results: 12
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 95, doi. 10.1007/s10048-014-0389-x
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- Publication type:
- Article
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 117, doi. 10.1007/s10048-014-0394-0
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- Publication type:
- Article
Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
- Published in:
- 2014
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- Publication type:
- Erratum
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 107, doi. 10.1007/s10048-014-0392-2
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- Publication type:
- Article
Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene.
- Published in:
- 2014
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- Publication type:
- Erratum
Reply to: The many faces of TUBB4A mutations.
- Published in:
- 2014
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- Publication type:
- Letter
The many faces of TUBB4A mutations.
- Published in:
- 2014
- By:
- Publication type:
- Letter
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 101, doi. 10.1007/s10048-014-0390-4
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- Publication type:
- Article
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 85, doi. 10.1007/s10048-013-0384-7
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- Publication type:
- Article
Large APP locus duplication in a sporadic case of cerebral haemorrhage.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 145, doi. 10.1007/s10048-014-0395-z
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- Publication type:
- Article
Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 135, doi. 10.1007/s10048-014-0397-x
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- Publication type:
- Article
Assessment of microRNA-related SNP effects in the 3′ untranslated region of the IL22RA2 risk locus in multiple sclerosis.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 129, doi. 10.1007/s10048-014-0396-y
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- Publication type:
- Article