Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

Brain

Volumn 133, Issue 8, 2010, Pages 2439-2447

  Assoum, Mirna ^a   Salih, Mustafa A ^b   Drouot, Nathalie ^a   Dorra H'Mida Ben, Brahim ^a,e   Lagier Tourenne, Clotilde ^a,f   Aldrees, Abdulmajeed ^b   Elmalik, Salah A ^b   Ahmed, Taha S ^b   Seidahmed, Mohammad Z ^c   Kabiraj, Mohammad M ^d   Koenig, Michel ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c SECURITY FORCES HOSPITAL   (Saudi Arabia)

^d The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^e FARHAT HACHED HOSPITAL   (Tunisia)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cerebellar ataxia; Epilepsy; RUN domain; Rundataxin; Salih ataxia

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; DIACYLGLYCEROL; LIPID BINDING PROTEIN; PHENOBARBITAL; PHENYTOIN; RAB7 PROTEIN; RUNDATAXIN; UNCLASSIFIED DRUG; VIGABATRIN; MICROSATELLITE DNA; RUNDATAXIN PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHROMOSOME 3Q; CONVULSION; DYSARTHRIA; ELECTROENCEPHALOGRAM; ENDOSOME; EPILEPSY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; INFANTILE SPASM; LYSOSOME; MENTAL DEFICIENCY; MISSENSE MUTATION; NYSTAGMUS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; BRAIN; CHROMOSOME MAP; CONSANGUINITY; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; SAUDI ARABIA; YOUNG ADULT;

ADOLESCENT; ATAXIA; BASE SEQUENCE; BRAIN; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICROSATELLITE REPEATS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SAUDI ARABIA; SEQUENCE DELETION; YOUNG ADULT;

EID: 77957037902     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq181     Document Type: Article

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