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Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
Heimer, G; Eyal, E; Zhu, X; Ruzzo, E K; Marek-Yagel, D; Sagiv, Doron; Anikster, Y; Reznik-Wolf, H; Pras, E; Oz Levi, D; Lancet, D; Ben-Zeev, B; Nissenkorn, A.
Affiliation
  • Heimer G; Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; Pinchas Borenstein Talpiot Medical Leadership Program, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Eyal E; Cancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Zhu X; Institute for Genomic Medicine, Columbia University Medical School, Columbia University Medical Center, New York, NY 10032, USA.
  • Ruzzo EK; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, USA.
  • Marek-Yagel D; The Metabolic Disorder Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Sagiv D; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Otolaryngology Head and Neck Surgery, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Anikster Y; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; The Metabolic Disorder Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Reznik-Wolf H; Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Pras E; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Oz Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel.
  • Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, 76100, Israel.
  • Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Nissenkorn A; Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; The Service for Rare Disorders, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, 52621
Eur J Paediatr Neurol ; 22(1): 93-101, 2018 Jan.
Article in En | MEDLINE | ID: mdl-28967629
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Riboflavin / Vitamin B Complex / Cerebellar Ataxia / Apoptosis Inducing Factor Limits: Adolescent / Child / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2018 Document type: Article Affiliation country: Israel Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Riboflavin / Vitamin B Complex / Cerebellar Ataxia / Apoptosis Inducing Factor Limits: Adolescent / Child / Humans / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2018 Document type: Article Affiliation country: Israel Country of publication: Reino Unido