A novel locus for episodic ataxia: UBR4 the likely candidate

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 505-510

  Conroy, Judith ^a   McGettigan, Paul ^b   Murphy, Raymond ^c   Webb, David ^d   Murphy, Sinéad M ^c   McCoy, Blathnaid ^d   Albertyn, Christine ^c   McCreary, Dara ^a   McDonagh, Cara ^c   Walsh, Orla ^d   Lynch, Sallyann ^a,d   Ennis, Sean ^b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c ADELAIDE AND MEATH HOSPITAL   (Ireland)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Brain; Episodic ataxia; Exome sequencing; HSPG2; Linkage analysis; UBR4

Indexed keywords

CALCIUM ION; CALMODULIN; ION CHANNEL; RYANODINE RECEPTOR; UBIQUITIN PROTEIN LIGASE;

ARTICLE; ATAXIA; CYTOPLASM; EPISODIC ATAXIA; EXOME; FATIGUE; GENE LOCUS; LINKAGE ANALYSIS; MAMMAL; NONHUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLURRED SPEECH; STRESS; UBR4 GENE; UNSTEADINESS; WEAKNESS;

ADOLESCENT; ADULT; ATAXIA; CALMODULIN-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 13; CYTOSKELETAL PROTEINS; EXOME; FEMALE; GENETIC LOCI; HUMANS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; IRELAND; LOD SCORE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84896545793     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.173     Document Type: Article

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