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

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.

Afiliação

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 em En | MEDLINE | ID: mdl-28967629

Assuntos

Fator de Indução de Apoptose/genética; Ataxia Cerebelar/tratamento farmacológico; Ataxia Cerebelar/genética; Riboflavina/uso terapêutico; Complexo Vitamínico B/uso terapêutico; Adolescente; Criança; Humanos; Masculino; Mutação de Sentido Incorreto; Fenótipo

Palavras-chave

Auditory neuropathy; Axonal neuropathy; Cerebellar atrophy; Myoclonus; Riboflavin

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Riboflavina / Complexo Vitamínico B / Ataxia Cerebelar / Fator de Indução de Apoptose Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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