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Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban, V; Alsagob, M; Kloth, K; Chirita-Emandi, A; Vandrovcova, J; Maroofian, R; Davagnanam, I; Bakhtiari, S; AlSayed, M D; Rahbeeni, Z; AlZaidan, H; Malintan, N T; Johannsen, J; Efthymiou, S; Ghayoor Karimiani, E; Mankad, K; Al-Shahrani, S A; Beiraghi Toosi, M; AlShammari, M; Groppa, S; Haridy, N A; AlQuait, L; Qari, A; Huma, R; Salih, M A; Almass, R; Almutairi, F B; Hamad, M H; Alorainy, I A; Ramzan, K; Imtiaz, F; Puiu, M; Kruer, M C; Bierhals, T; Wood, N W; Colak, D; Houlden, H; Kaya, N.
Afiliação
  • Chelban V; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK.
  • Alsagob M; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Moldova.
  • Kloth K; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Chirita-Emandi A; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
  • Vandrovcova J; Genetics Department, University 'Victor Babes', Timisoara, Romania.
  • Maroofian R; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK.
  • Davagnanam I; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
  • Bakhtiari S; Brain Repair and Rehabilitation, University College London Institute of Neurology, London, UK.
  • AlSayed MD; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Rahbeeni Z; Department of Child Health, Cellular and Molecular Medicine, Department of Neurology, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA.
  • AlZaidan H; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Malintan NT; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Johannsen J; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Efthymiou S; Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK.
  • Ghayoor Karimiani E; Department of Paediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
  • Mankad K; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK.
  • Al-Shahrani SA; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
  • Beiraghi Toosi M; Great Ormond Street Hospitals, London, UK.
  • AlShammari M; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Groppa S; Department of Paediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Haridy NA; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • AlQuait L; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Moldova.
  • Qari A; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK.
  • Huma R; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt.
  • Salih MA; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Almass R; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Almutairi FB; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Hamad MH; Neurology Division, Department of Pediatrics, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia.
  • Alorainy IA; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Ramzan K; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Imtiaz F; Neurology Division, Department of Pediatrics, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia.
  • Puiu M; Department of Radiology & Medical Imaging, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia.
  • Kruer MC; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Bierhals T; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Wood NW; Genetics Department, University 'Victor Babes', Timisoara, Romania.
  • Colak D; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Houlden H; Department of Child Health, Cellular and Molecular Medicine, Department of Neurology, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA.
  • Kaya N; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.
Eur J Neurol ; 27(2): 334-342, 2020 02.
Article em En | MEDLINE | ID: mdl-31509304
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Ataxias Espinocerebelares / Deficiência Intelectual / Espasticidade Muscular Limite: Child / Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Ataxias Espinocerebelares / Deficiência Intelectual / Espasticidade Muscular Limite: Child / Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido