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Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Dyment, David A; Smith, Amanda C; Humphreys, Peter; Schwartzentruber, Jeremy; Beaulieu, Chandree L; Bulman, Dennis E; Majewski, Jacek; Woulfe, John; Michaud, Jean; Boycott, Kym M.
Affiliation
  • Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada. Electronic address: ddyment@cheo.on.ca.
  • Smith AC; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Humphreys P; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
  • Schwartzentruber J; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
  • Beaulieu CL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Bulman DE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Majewski J; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
  • Woulfe J; Department of Pathology and Laboratory Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
  • Michaud J; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
  • Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Neurobiol Aging ; 36(2): 1222.e1-5, 2015 Feb.
Article in En | MEDLINE | ID: mdl-25316601
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tau Proteins / Phosphoric Monoester Hydrolases / Codon, Nonsense / Neurodegenerative Diseases / Tauopathies / Epilepsy / Homozygote Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Neurobiol Aging Year: 2015 Document type: Article Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tau Proteins / Phosphoric Monoester Hydrolases / Codon, Nonsense / Neurodegenerative Diseases / Tauopathies / Epilepsy / Homozygote Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Neurobiol Aging Year: 2015 Document type: Article Country of publication: Estados Unidos