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TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
Heimer, Gali; Oz-Levi, Danit; Eyal, Eran; Edvardson, Shimon; Nissenkorn, Andreea; Ruzzo, Elizabeth K; Szeinberg, Amir; Maayan, Channa; Mai-Zahav, Meir; Efrati, Ori; Pras, Elon; Reznik-Wolf, Haike; Lancet, Doron; Goldstein, David B; Anikster, Yair; Shalev, Stavit A; Elpeleg, Orly; Ben Zeev, Bruria.
Afiliação
  • Heimer G; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Med. Ctr., Israel. Electronic address: galih.md@gmail.com.
  • Oz-Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel.
  • Eyal E; Cancer Research Center, Pediatric Hemato/Oncology Unit, Edmond and Lily Safra Children's, Hospital, The Chaim Sheba Med. Ctr., Israel.
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University, Med. Ctr., Jerusalem, Israel.
  • Nissenkorn A; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel.
  • Ruzzo EK; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, USA.
  • Szeinberg A; Pediatric Sleep clinic, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel.
  • Maayan C; Familial Dysautonomia Centre, Pediatric Department, Hadassah Hospital, Hebrew University Hadassah, Medical School, Jerusalem, Israel.
  • Mai-Zahav M; Pulmonary Institute, Schneider Children's Med. Ctr., Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Efrati O; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel; Pediatric Pulmonary Unit, The Edmond and Lily Safra Children's Hospital, Sheba Med. Ctr., Israel.
  • Pras E; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel; Danek Gertner Institute of Human Genetics, Sheba Med. Ctr., Ramat Gan, Israel.
  • Reznik-Wolf H; Danek Gertner Institute of Human Genetics, Sheba Med. Ctr., Ramat Gan, Israel.
  • Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University Medical School, Columbia University Med. Ctr., New York, NY 10032, USA.
  • Anikster Y; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel.
  • Shalev SA; Genetic Institute, Ha'Emek Med. Ctr., Afula 18101, Israel; Rappaport Faculty of Medicine, Technion, Israel.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University, Med. Ctr., Jerusalem, Israel.
  • Ben Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address: bruria.benzeev@sheba.health.gov.il.
Eur J Paediatr Neurol ; 20(1): 69-79, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26542466
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Neuropatias Hereditárias Sensoriais e Autônomas / Proteínas de Transporte / Disautonomia Familiar / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Neuropatias Hereditárias Sensoriais e Autônomas / Proteínas de Transporte / Disautonomia Familiar / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article