Works matching IS 13646745 AND DT 2016 AND VI 17 AND IP 1
Results: 11
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 25, doi. 10.1007/s10048-015-0464-y
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- Publication type:
- Article
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x
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- Publication type:
- Article
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
- Published in:
- 2016
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- Publication type:
- Letter
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 17, doi. 10.1007/s10048-015-0462-0
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- Publication type:
- Article
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 51, doi. 10.1007/s10048-015-0463-z
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- Publication type:
- Article
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 11, doi. 10.1007/s10048-015-0460-2
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- Publication type:
- Article
Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 57, doi. 10.1007/s10048-015-0461-1
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- Publication type:
- Article
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 43, doi. 10.1007/s10048-015-0466-9
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- Publication type:
- Article
COMT Val Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 31, doi. 10.1007/s10048-015-0467-8
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- Publication type:
- Article
Refining the phenotype associated with CASC5 mutation.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 71, doi. 10.1007/s10048-015-0468-7
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- Publication type:
- Article
Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 1, doi. 10.1007/s10048-015-0458-9
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- Publication type:
- Article