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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer, Gali; Kerätär, Juha M; Riley, Lisa G; Balasubramaniam, Shanti; Eyal, Eran; Pietikäinen, Laura P; Hiltunen, J Kalervo; Marek-Yagel, Dina; Hamada, Jeffrey; Gregory, Allison; Rogers, Caleb; Hogarth, Penelope; Nance, Martha A; Shalva, Nechama; Veber, Alvit; Tzadok, Michal; Nissenkorn, Andreea; Tonduti, Davide; Renaldo, Florence; Kraoua, Ichraf; Panteghini, Celeste; Valletta, Lorella; Garavaglia, Barbara; Cowley, Mark J; Gayevskiy, Velimir; Roscioli, Tony; Silberstein, Jonathon M; Hoffmann, Chen; Raas-Rothschild, Annick; Tiranti, Valeria; Anikster, Yair; Christodoulou, John; Kastaniotis, Alexander J; Ben-Zeev, Bruria; Hayflick, Susan J.
Afiliação
  • Heimer G; Pediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Isr
  • Kerätär JM; Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
  • Riley LG; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia.
  • Balasubramaniam S; Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Department of Rheumatology and Metabolic Medicine, Princess Margaret Hospital, Perth, WA 6000, Australia.
  • Eyal E; Cancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Pietikäinen LP; Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
  • Hiltunen JK; Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
  • Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Hamada J; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
  • Gregory A; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
  • Rogers C; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
  • Hogarth P; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA.
  • Nance MA; Struthers Parkinson's Center, Golden Valley, MN 55427, USA.
  • Shalva N; Metabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Veber A; Metabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Tzadok M; Pediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Nissenkorn A; Pediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
  • Tonduti D; Child Neurology Department, Foundation IRCCS, Neurological Institute C. Besta, 20133 Milan, Italy.
  • Renaldo F; Department of Neuropediatrics and Metabolic Diseases; Robert Debré Hospital, 75019 Paris, France.
  • Kraoua I; Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, 1007 Tunis, Tunisia.
  • Panteghini C; Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
  • Valletta L; Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
  • Garavaglia B; Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
  • Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; St Vincent's Clinical School, University of NSW, Sydney, NSW 2010, Australia.
  • Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
  • Roscioli T; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; St Vincent's Clinical School, University of NSW, Sydney, NSW 2010, Australia.
  • Silberstein JM; Neurology Department, Princess Margaret Hospital, Perth, WA 6000, Australia.
  • Hoffmann C; Diagnostic Imaging Unit, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Raas-Rothschild A; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
  • Tiranti V; Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
  • Anikster Y; Metabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
  • Christodoulou J; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, S
  • Kastaniotis AJ; Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
  • Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel. Electronic address: bruria.benzeev@sheba.health.gov.il.
  • Hayflick SJ; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA; Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA. Electr
Am J Hum Genet ; 99(6): 1229-1244, 2016 Dec 01.
Article em En | MEDLINE | ID: mdl-27817865
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Distúrbios Distônicos / Oxirredutases atuantes sobre Doadores de Grupo CH-CH / Ácidos Graxos / Mitocôndrias / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Distúrbios Distônicos / Oxirredutases atuantes sobre Doadores de Grupo CH-CH / Ácidos Graxos / Mitocôndrias / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article