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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Kumar, Raman; Corbett, Mark A; Smith, Nicholas J C; Jolly, Lachlan A; Tan, Chuan; Keating, Damien J; Duffield, Michael D; Utsumi, Toshihiko; Moriya, Koko; Smith, Katherine R; Hoischen, Alexander; Abbott, Kim; Harbord, Michael G; Compton, Alison G; Woenig, Joshua A; Arts, Peer; Kwint, Michael; Wieskamp, Nienke; Gijsen, Sabine; Veltman, Joris A; Bahlo, Melanie; Gleeson, Joseph G; Haan, Eric; Gecz, Jozef.
Afiliação
  • Kumar R; Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and.
  • Corbett MA; School of Paediatrics and Reproductive Health, Robinson Research Institute and.
  • Smith NJ; School of Paediatrics and Reproductive Health, Robinson Research Institute and, Department of Neurology, Women's and Children's Health Network, Adelaide, SA, Australia.
  • Jolly LA; School of Paediatrics and Reproductive Health, Robinson Research Institute and.
  • Tan C; School of Paediatrics and Reproductive Health, Robinson Research Institute and.
  • Keating DJ; Department of Human Physiology and Centre for Neuroscience, Flinders University of South Australia, Adelaide, SA, Australia.
  • Duffield MD; Department of Human Physiology and Centre for Neuroscience, Flinders University of South Australia, Adelaide, SA, Australia.
  • Utsumi T; Applied Molecular Bioscience, Yamaguchi University, Yamaguchi, Japan.
  • Moriya K; Applied Molecular Bioscience, Yamaguchi University, Yamaguchi, Japan.
  • Smith KR; The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology.
  • Hoischen A; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Abbott K; Department of Neurology, Women's and Children's Health Network, Adelaide, SA, Australia.
  • Harbord MG; Centre for Disability Health, Modbury Hospital, Adelaide, SA, Australia.
  • Compton AG; Department of Paediatrics and, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC, Australia.
  • Woenig JA; Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and.
  • Arts P; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Kwint M; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Wieskamp N; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Gijsen S; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Veltman JA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  • Bahlo M; The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, Department of Mathematics and Statistics, The University of Melbourne, Melbourne, VIC, Australia.
  • Gleeson JG; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, CA, USA and.
  • Haan E; School of Paediatrics and Reproductive Health, Robinson Research Institute and, South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA, Australia.
  • Gecz J; Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia, jozef.gecz@adelaide.edu.au.
Hum Mol Genet ; 24(7): 2000-10, 2015 Apr 01.
Article em En | MEDLINE | ID: mdl-25504045
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doenças Neurodegenerativas / Homozigoto / Doenças do Recém-Nascido / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doenças Neurodegenerativas / Homozigoto / Doenças do Recém-Nascido / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article