Found: 12
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Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 233, doi. 10.1007/s10048-011-0278-5
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- Publication type:
- Article
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC).
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 175, doi. 10.1007/s10048-011-0280-y
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- Publication type:
- Article
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 183, doi. 10.1007/s10048-011-0279-4
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- Publication type:
- Article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
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- Publication type:
- Article
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
- Published in:
- 2011
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- Publication type:
- Letter
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8
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- Publication type:
- Article
Call for participation in the neurogenetics consortium within the Human Variome Project.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4
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- Publication type:
- Article
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 247, doi. 10.1007/s10048-011-0286-5
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- Publication type:
- Article
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 223, doi. 10.1007/s10048-011-0285-6
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- Publication type:
- Article
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 203, doi. 10.1007/s10048-011-0288-3
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- Publication type:
- Article
Audiogenic seizure proneness requires the contribution of two susceptibility loci in mice.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 253, doi. 10.1007/s10048-011-0289-2
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- Publication type:
- Article
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 211, doi. 10.1007/s10048-011-0290-9
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- Publication type:
- Article