A novel locus for episodic ataxia:UBR4 the likely candidate. - Wikidata - awgldk - TriplyDB

A novel locus for episodic ataxia:UBR4 the likely candidate.

A novel locus for episodic ataxia:UBR4 the likely candidate.

http://www.wikidata.org/entity/Q37636726

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Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.Episodic Ataxias: Clinical and Genetic Features Genes and genetic testing in hereditary ataxias.The pineal gland: A model for adrenergic modulation of ubiquitin ligases Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias p600/UBR4 in the central nervous system.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.Genetic Variants Associated with Episodic Ataxia in Korea.Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease.A novel mutation in SLC1A3 causes episodic ataxia.Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.Neuropathology in a case of episodic ataxia type 4.

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A novel locus for episodic ataxia:UBR4 the likely candidate.

http://www.wikidata.org/entity/Q37636726

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 28 August 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

A novel locus for episodic ataxia:UBR4 the likely candidate.

@en

A novel locus for episodic ataxia:UBR4 the likely candidate.

@nl

type

label

A novel locus for episodic ataxia:UBR4 the likely candidate.

@en

A novel locus for episodic ataxia:UBR4 the likely candidate.

@nl

prefLabel

A novel locus for episodic ataxia:UBR4 the likely candidate.

@en

A novel locus for episodic ataxia:UBR4 the likely candidate.

@nl

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European Journal of Human Genetics

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A novel locus for episodic ataxia:UBR4 the likely candidate.

@en

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Blathnaid McCoy

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Cara McDonagh

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Christine Albertyn

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Dara McCreary

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David Webb

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Judith Conroy

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Orla Walsh

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Raymond Murphy

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Sallyann Lynch

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P2860

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

A human protein-protein interaction network: a resource for annotating the proteome

p600, a unique protein required for membrane morphogenesis and cell survival.

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

Micromolar-affinity benzodiazepine receptors regulate voltage-sensitive calcium channels in nerve terminal preparations

Fast and accurate short read alignment with Burrows-Wheeler transform

PLINK: a tool set for whole-genome association and population-based linkage analyses

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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505-510

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scholarly article

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10.1038/EJHG.2013.173

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4

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22

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Paul A McGettigan

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2013-08-28T00:00:00Z

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23982692

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