Works matching IS 13646745 AND DT 2013 AND VI 14 AND IP 3/4
Results: 15
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 243, doi. 10.1007/s10048-013-0367-8
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- Publication type:
- Article
Acknowledgement to Referees 2012/2013.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 259, doi. 10.1007/s10048-013-0382-9
- Publication type:
- Article
Neuroligin modulates the locomotory dopaminergic and serotonergic neuronal pathways of C. elegans.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 233, doi. 10.1007/s10048-013-0377-6
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- Publication type:
- Article
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 247, doi. 10.1007/s10048-013-0371-z
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- Publication type:
- Article
Genetic modifiers in Huntington's disease: fiction or fact?
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 173, doi. 10.1007/s10048-013-0364-y
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- Publication type:
- Article
The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
- Published in:
- 2013
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- Publication type:
- Letter
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Publication type:
- Article
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 197, doi. 10.1007/s10048-013-0372-y
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- Publication type:
- Article
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 205, doi. 10.1007/s10048-013-0374-9
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- Publication type:
- Article
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 225, doi. 10.1007/s10048-013-0375-8
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- Publication type:
- Article
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 189, doi. 10.1007/s10048-013-0368-7
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- Publication type:
- Article
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 251, doi. 10.1007/s10048-013-0376-7
- By:
- Publication type:
- Article
Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 181, doi. 10.1007/s10048-013-0366-9
- By:
- Publication type:
- Article