Found: 19
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Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
- Published in:
- Nature Genetics, 2007, v. 39, n. 1, p. 80, doi. 10.1038/ng1927
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- Publication type:
- Article
Absence of mutations in the hypoxia response element of VEGF in ALS.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 6, p. 774, doi. 10.1002/mus.10498
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- Publication type:
- Article
blue snow.
- Published in:
- 2022
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- Publication type:
- Poem
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
- Published in:
- 2020
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- Publication type:
- journal article
Characterization of a novel SPG3A deletion in a French‐Canadian family.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 6, p. 599, doi. 10.1002/ana.21114
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- Publication type:
- Article
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 5, p. 757
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- Publication type:
- Article
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2211, doi. 10.1093/hmg/dds036
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- Publication type:
- Article
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
- Published in:
- 2021
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- Publication type:
- journal article
Rare deleterious variants in GRHL3 are associated with human spina bifida.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 716, doi. 10.1002/humu.23214
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- Publication type:
- Article
EFFECTS OF FINANCIAL INCLUSION TO GDP GROWTH – THE CASE OF NORTH MACEDONIA.
- Published in:
- Ekonomika, 2022, v. 68, n. 1, p. 57, doi. 10.5937/ekonomika2201057E
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- Publication type:
- Article
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
- Published in:
- Neurogenetics, 2020, v. 21, n. 3, p. 227, doi. 10.1007/s10048-020-00612-7
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- Publication type:
- Article
Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 6, p. 4317, doi. 10.1007/s12035-018-1369-1
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- Publication type:
- Article
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
- Published in:
- 2019
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- Publication type:
- journal article
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
- Published in:
- 2018
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- Publication type:
- journal article
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome.
- Published in:
- Canadian Journal of Neurological Sciences, 2005, v. 32, n. 3, p. 321, doi. 10.1017/S0317167100004200
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- Publication type:
- Article
Linkage to the CCM2 Locus and Genetic Heterogeneity in Familial Cerebral Cavernous Malformation.
- Published in:
- Canadian Journal of Neurological Sciences, 2003, v. 30, n. 2, p. 122, doi. 10.1017/S0317167100053385
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- Publication type:
- Article
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0183-0
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- Publication type:
- Article