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Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova, Dragana J; Monroe, Glen R; Tessadori, Federico; de Graaff, Esther; van der Zwaag, Bert; Mehta, Sarju G; Harakalova, Magdalena; Duran, Karen J; Savelberg, Sanne M C; Nijman, Isaäc J; Jungbluth, Heinz; Hoogenraad, Casper C; Bakkers, Jeroen; Knoers, Nine V; Firth, Helen V; Beales, Philip L; van Haaften, Gijs; van Haelst, Mieke M.
Afiliação
  • Josifova DJ; Department of Clinical Genetics, Guys' and St. Thomas' Hospital, London SE1 7EH, UK.
  • Monroe GR; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • Tessadori F; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht 3584 CT, The Netherlands.
  • de Graaff E; Division of Cell Biology, Faculty of Science, University of Utrecht, Utrecht 3584 CH, The Netherlands.
  • van der Zwaag B; Department of Genetics.
  • Mehta SG; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
  • Harakalova M; Department of Genetics.
  • Duran KJ; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • Savelberg SM; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • Nijman IJ; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • Jungbluth H; Department of Paediatric Neurology, Evelina Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, Department of Basic and Clinical Neuroscience, IoPPN, King's College, London WC2R 2L
  • Hoogenraad CC; Division of Cell Biology, Faculty of Science, University of Utrecht, Utrecht 3584 CH, The Netherlands.
  • Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht 3584 CT, The Netherlands Department of Medical Physiology, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • Knoers NV; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • Firth HV; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1RQ, UK.
  • Beales PL; Genetics and Genomics Medicine Program, UCL Institute of Child Health, London WC1N 1EH, UK.
  • van Haaften G; Department of Genetics Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
  • van Haelst MM; Department of Genetics m.vanhaelst@umcutrecht.nl.
Hum Mol Genet ; 25(11): 2158-2167, 2016 06 01.
Article em En | MEDLINE | ID: mdl-27005418
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Base de dados: MEDLINE Assunto principal: Paraplegia / Nistagmo Congênito / Proteínas de Peixe-Zebra / Proteínas de Membrana / Deficiência Intelectual / Proteínas do Tecido Nervoso / Obesidade Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido
Buscar no Google
Imprimir
XML
PubMed Links

Base de dados: MEDLINE Assunto principal: Paraplegia / Nistagmo Congênito / Proteínas de Peixe-Zebra / Proteínas de Membrana / Deficiência Intelectual / Proteínas do Tecido Nervoso / Obesidade Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido