A novel locus for episodic ataxia:UBR4 the likely candidate.
about
Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxiaKCMF1 (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 FeaturesGenes and genetic testing in hereditary ataxias.The pineal gland: A model for adrenergic modulation of ubiquitin ligasesEmerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxiasp600/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.
P2860
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P2860
A novel locus for episodic ataxia:UBR4 the likely candidate.
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
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel locus for episodic ataxia:UBR4 the likely candidate.
@en
A novel locus for episodic ataxia:UBR4 the likely candidate.
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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
P2093
P2860
P50
P356
P1476
A novel locus for episodic ataxia:UBR4 the likely candidate.
@en
P2093
Blathnaid McCoy
Cara McDonagh
Christine Albertyn
Dara McCreary
David Webb
Judith Conroy
Orla Walsh
Raymond Murphy
Sallyann Lynch
P2860
P2888
P304
P356
10.1038/EJHG.2013.173
P577
2013-08-28T00:00:00Z