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Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip.
Afiliação
  • Thomas AC; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Williams H; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Centre for Translational Omics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Setó-Salvia N; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Bacchelli C; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Centre for Translational Omics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Jenkins D; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • O'Sullivan M; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Mengrelis K; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Ishida M; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Ocaka L; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Centre for Translational Omics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Chanudet E; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Centre for Translational Omics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.
  • James C; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Centre for Translational Omics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Lescai F; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Centre for Translational Omics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK; Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.
  • Anderson G; Histopathology Department, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Morrogh D; NE Thames Regional Genetics Laboratory Service, London WC1N 3BH, UK.
  • Ryten M; UCL Institute of Neurology, London WC1N 3BG, UK; Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, UK.
  • Duncan AJ; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Pai YJ; Developmental Biology and Cancer, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Saraiva JM; Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal.
  • Ramos F; Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal.
  • Farren B; Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Saunders D; Radiology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Vernay B; Developmental Biology and Cancer, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Gissen P; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Straatmaan-Iwanowska A; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.
  • Wood NW; UCL Institute of Neurology, London WC1N 3BG, UK.
  • Hersheson J; UCL Institute of Neurology, London WC1N 3BG, UK.
  • Houlden H; UCL Institute of Neurology, London WC1N 3BG, UK.
  • Hurst J; Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Scott R; Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Bitner-Glindzicz M; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Moore GE; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Sousa SB; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK; Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal. Electronic address: sbsousa@chc.min-saude.pt.
  • Stanier P; Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK. Electronic address: p.stanier@ucl.ac.uk.
Am J Hum Genet ; 95(5): 611-21, 2014 Nov 06.
Article em En | MEDLINE | ID: mdl-25439728
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Nexinas de Classificação / Deficiência Intelectual Idioma: En Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Nexinas de Classificação / Deficiência Intelectual Idioma: En Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Reino Unido