Works matching IS 13646745 AND DT 2017 AND VI 18 AND IP 3
Results: 8
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 121, doi. 10.1007/s10048-017-0514-8
- By:
- Publication type:
- Article
Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 155, doi. 10.1007/s10048-017-0519-3
- By:
- Publication type:
- Article
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 169, doi. 10.1007/s10048-017-0512-x
- By:
- Publication type:
- Article
Pain insensitivity: distal S6-segment mutations in Na1.9 emerge as critical hotspot.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 135, doi. 10.1007/s10048-017-0515-7
- By:
- Publication type:
- Article
Male patients affected by mosaic PCDH19 mutations: five new cases.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 147, doi. 10.1007/s10048-017-0517-5
- By:
- Publication type:
- Article
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 141, doi. 10.1007/s10048-017-0516-6
- By:
- Publication type:
- Article
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 3, p. 175, doi. 10.1007/s10048-017-0518-4
- By:
- Publication type:
- Article