Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Autor: Alabdulrazzaq F; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.; Kuwait Institute of Medical Specialization, Sulaibkikhat, Kuwait., Alanzi T; Division Medical Genetics and Metabolic, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Al-Balool HH; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK., Leitch HG; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Medical Research Council, London Institute of Medical Sciences, London, UK.; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, UK., AlSayed M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Faculty of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Abdulrahim M; King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Aladwani A; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Romito A; CENTOGENE GmbH, Rostock, Germany., Kampe K; CENTOGENE GmbH, Rostock, Germany., Ferdinandusse S; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands., Aboelanine AH; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Abdullah A; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait., Alwadani A; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Bastaki L; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait., Vaz FM; Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands., Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany., Marafi D; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2256. Date of Electronic Publication: 2023 Aug 18.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Autor: Saoura M; York College, The City University of New York, Jamaica, New York., Powell CA; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Kopajtich R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Alahmad A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Al-Balool HH; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Albash B; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Alfadhel M; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Bertini E; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Carrozzo R; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Donati MA; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy., Di Nottia M; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Goldstein A; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA., Haan E; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Horvath R; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lucas B; York College, The City University of New York, Jamaica, New York., Pinnock KG; York College, The City University of New York, Jamaica, New York., Pujantell M; York College, The City University of New York, Jamaica, New York., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Rebelo-Guiomar P; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Graduate Program in Areas of Basic and Applied Biology, University of Porto, Porto, Portugal., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Verrigni D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., McFarland R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Prokisch H; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Levinger L; York College, The City University of New York, Jamaica, New York., Minczuk M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

Publikováno v: Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1731-1748. Date of Electronic Publication: 2019 Jun 18.

Identification of a neuronal transcription factor network involved in medulloblastoma development.

Autor: Lastowska M; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. michael.jackson@newcastle.ac.uk., Al-Afghani H, Al-Balool HH, Sheth H, Mercer E, Coxhead JM, Redfern CP, Peters H, Burt AD, Santibanez-Koref M, Bacon CM, Chesler L, Rust AG, Adams DJ, Williamson D, Clifford SC, Jackson MS

Publikováno v: Acta neuropathologica communications [Acta Neuropathol Commun] 2013 Jul 11; Vol. 1, pp. 35. Date of Electronic Publication: 2013 Jul 11.