Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

American Journal of Human Genetics

Volumn 95, Issue 5, 2014, Pages 611-621

  Thomas, Anna C ^a   Williams, Hywel ^a   Setõ Salvia, Núria ^a   Bacchelli, Chiara ^a   Jenkins, Dagan ^a   O'Sullivan, Mary ^a   Mengrelis, Konstantinos ^a   Ishida, Miho ^a   Ocaka, Louise ^a   Chanudet, Estelle ^a   James, Chela ^a   Lescai, Francesco ^a,b   Anderson, Glenn ^c   Morrogh, Deborah ^d   Ryten, Mina ^e,f   Duncan, Andrew J ^a   Pai, Yun Jin ^a   Saraiva, Jorge M ^g,h   Ramos, Fabiana ^g   Farren, Bernadette ^c   Saunders, Dawn ^c   Vernay, Bertrand ^a   Gissen, Paul ^a   Straatmaan Iwanowska, Anna ^a   Baas, Frank ⁱ   Wood, Nicholas W ^e   Hersheson, Joshua ^e   Houlden, Henry ^e   Hurst, Jane ^c   Scott, Richard ^c   Bitner Glindzicz, Maria ^a,c   Moore, Gudrun E ^a   Sousa, Sérgio B ^a,g   Stanier, Philip ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b AARHUS UNIVERSITY   (Denmark)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d NE Thames Regional Genetics Laboratory Service ^*  (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f GUY S HOSPITAL   (United Kingdom)

^g CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^h UNIVERSITY OF COIMBRA   (Portugal)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

RGS PROTEIN; SNX14 PROTEIN, HUMAN; SORTING NEXIN; STOP CODON;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL FUNCTION; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FACIES; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MALE; NEUROIMAGING; NONSENSE MUTATION; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SORTING NEXIN 14 GENE; CASE REPORT; CHROMOSOME MAP; DNA SEQUENCE; ELECTRON MICROSCOPY; FIBROBLAST; GENE REGULATORY NETWORK; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; ULTRASTRUCTURE;

BASE SEQUENCE; CEREBELLAR ATAXIA; CHROMOSOME MAPPING; CODON, NONSENSE; FEMALE; FIBROBLASTS; GENE REGULATORY NETWORKS; GENES, RECESSIVE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SORTING NEXINS;

EID: 84922281936     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.007     Document Type: Article

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