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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Boycott, Kym M; Beaulieu, Chandree L; Kernohan, Kristin D; Gebril, Ola H; Mhanni, Aziz; Chudley, Albert E; Redl, David; Qin, Wen; Hampson, Sarah; Küry, Sébastien; Tetreault, Martine; Puffenberger, Erik G; Scott, James N; Bezieau, Stéphane; Reis, André; Uebe, Steffen; Schumacher, Johannes; Hegele, Robert A; McLeod, D Ross; Gálvez-Peralta, Marina; Majewski, Jacek; Ramaekers, Vincent T; Nebert, Daniel W; Innes, A Micheil; Parboosingh, Jillian S; Abou Jamra, Rami.
Affiliation
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.
  • Beaulieu CL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Gebril OH; National Research Centre, El Bohoth Street, Dokki, Giza 12622, Egypt.
  • Mhanni A; Section of Genetics and Metabolism, Children's Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.
  • Chudley AE; Section of Genetics and Metabolism, Children's Hospital and the Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.
  • Redl D; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Qin W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Hampson S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Küry S; Department of Medical Genetics, CHU Nantes, Nantes 44093, France.
  • Tetreault M; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
  • Puffenberger EG; Clinic for Special Children, Strasburg, PA 17579, USA.
  • Scott JN; Department of Radiology, Foothills Hospital, Calgary, AB T2N 2T9, Canada.
  • Bezieau S; Department of Medical Genetics, CHU Nantes, Nantes 44093, France.
  • Reis A; Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen 91054, Germany.
  • Uebe S; Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen 91054, Germany.
  • Schumacher J; Institute of Human Genetics, University of Bonn, Bonn 53012, Germany.
  • Hegele RA; Robarts Research Institute and University of Western Ontario, London, ON N6A 5B7, Canada.
  • McLeod DR; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Gálvez-Peralta M; Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
  • Majewski J; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.
  • Ramaekers VT; Department of Paediatric Neurology, Centre Hospitalier Universitaire, Liege 4032, Belgium.
  • Nebert DW; Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Department of Pediatrics & Molecular Developmental Biology, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.
  • Innes AM; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Parboosingh JS; Department of Medical Genetics, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Abou Jamra R; Institute of Human Genetics, FAU Erlangen-Nürnberg, Erlangen 91054, Germany. Electronic address: rami.aboujamra@medizin.uni-leipzig.de.
Am J Hum Genet ; 97(6): 886-93, 2015 Dec 03.
Article in En | MEDLINE | ID: mdl-26637978
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zinc / Cerebellar Diseases / Cation Transport Proteins / Dwarfism / Genes, Recessive / Manganese / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2015 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Zinc / Cerebellar Diseases / Cation Transport Proteins / Dwarfism / Genes, Recessive / Manganese / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2015 Type: Article