Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.

Autor: Chelban V; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK.; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Moldova., Alsagob M; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia., Kloth K; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Chirita-Emandi A; Genetics Department, University 'Victor Babes', Timisoara, Romania., Vandrovcova J; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK., Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK., Davagnanam I; Brain Repair and Rehabilitation, University College London Institute of Neurology, London, UK., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Department of Child Health, Cellular and Molecular Medicine, Department of Neurology, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA., AlSayed MD; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia., Rahbeeni Z; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia., AlZaidan H; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia., Malintan NT; Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, UK., Johannsen J; Department of Paediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Efthymiou S; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK., Ghayoor Karimiani E; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK., Mankad K; Great Ormond Street Hospitals, London, UK., Al-Shahrani SA; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia., Beiraghi Toosi M; Department of Paediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., AlShammari M; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia., Groppa S; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Moldova., Haridy NA; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK.; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt., AlQuait L; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia., Qari A; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia., Huma R; Medical Genetics, KFSHRC, Riyadh, Saudi Arabia., Salih MA; Neurology Division, Department of Pediatrics, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia., Almass R; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia., Almutairi FB; Department of 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 Radiology & Medical Imaging, College of Medicine, King Saud University KFSHRC, Riyadh, Saudi Arabia., Ramzan K; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia., Imtiaz F; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia., Puiu M; Genetics Department, University 'Victor Babes', Timisoara, Romania., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Department of Child Health, Cellular and Molecular Medicine, Department of Neurology, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA., Bierhals T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Wood NW; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia., Houlden H; Department of Neuromuscular Diseases, University College London Institute of Neurology, London, UK., Kaya N; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.

Publikováno v: European journal of neurology [Eur J Neurol] 2020 Feb; Vol. 27 (2), pp. 334-342. Date of Electronic Publication: 2019 Oct 17.

Molecular and clinical spectra of FBXL4 deficiency.

Autor: El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Wang J; Medical Scientist Training Program and Program in Developmental Biology, Baylor College of Medicine, Houston, Texas., Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Asmari A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Saleh MAM; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Elamin MAO; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aldosary MS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Almass R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Almutairi FB; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Sharfa S; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Rahbeeni Z; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Muhaizea MA; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Makhseed N; Department of Pediatrics, Al-Jahra Hospital, Ministry of Health, Al-Jahra City, Kuwait., Foskett GK; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Stevenson DA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Gomez-Ospina N; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Lee C; Department of Pediatrics, Stanford University School of Medicine, Stanford, California., Boles RG; Lineagen, Salt Lake City, Utah., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Sperl W; Department of Pediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria., Opladen T; Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine, University Hospital, Heidelberg, Germany., Hoffmann GF; Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine, University Hospital, Heidelberg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chan W; Department of Biostatistics, School of Public Health, University of Texas-Health Science Center at Houston, Houston, Texas., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Wong LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Publikováno v: Human mutation [Hum Mutat] 2017 Dec; Vol. 38 (12), pp. 1649-1659. Date of Electronic Publication: 2017 Oct 06.