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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Autor: Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Kim SH; Goodman Cancer Institute, McGill University, Montreal, Canada; Department of Biochemistry, McGill University, Montreal, Canada., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Landsverk M; University of South Dakota Sanford School of Medicine Sioux Falls, SD; Sanford Research, Pediatrics and Rare Diseases Group, Sioux Falls, SD., Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Srinivasan VM; Indira Gandhi Institute of Child Health, Bangalore, India., Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Schaefer GB; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR., Davis M; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR., Tonduti D; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Doneda C; Pediatric Radiology and Neuroradiology Department, Children's Hospital Vittore Buzzi, Milan, Italy., Marten LM; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany., Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany., Gomez M; Centro de Obsetricia y Ginecologia & Centro Medico Moderno, Santo Domingo, Dominican Republic., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Mena R; Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Centro de Obsetricia y Ginecologia, Santo Domingo, Dominican Republic., Nizon M; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Procaccio V; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France; Department of Genetics, CHU Angers, Angers, France., Begtrup A; GeneDx, Gaithersburg, MD., Telegrafi A; GeneDx, Gaithersburg, MD., Cui H; GeneDx, Gaithersburg, MD., Schulz HL; Human Genetic center Tübingen, Baden-Württemberg, Germany., Mohr J; Human Genetic center Tübingen, Baden-Württemberg, Germany., Biskup S; Human Genetic center Tübingen, Baden-Württemberg, Germany; CeGaT GmbH, Germany., Loos MA; Department of Neurology, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina., Aráoz HV; Genomics Laboratory, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Keppen LD; University of South Dakota Sanford School of Medicine Sioux Falls, SD; Sanford Research, Pediatrics and Rare Diseases Group, Sioux Falls, SD., Chitre M; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Raymond L; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Vogt J; West Midlands Regional Genetics Service, Birmingham Women and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Sawyer LB; Children's Hospital of the King's Daughters, Norfolk, Virginia, VA., Basinger AA; Children's Hospital of the King's Daughters, Norfolk, Virginia, VA., Pedersen SV; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; Center for the Investigation of Membrane Excitability Diseases (CIMED), St. Louis, MO., Lingappa L; Rainbow Children Hospital, Hyderabad, India., McDunnah P; Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom., Cognè B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France., Hahn A; Department of Child Neurology, University Hospital, Gießen, Germany., Gripp KW; Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE., Jafarnejad SM; Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom., Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert Lurie Children's Hospital of Chicago, Chicago; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago; Fundacion Cardiovascular de Colombia, Floridablanca, Colombia., 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., Gowda VK; Indira Gandhi Institute of Child Health, Bangalore, India., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University, Newcastle upon Tyne, United Kingdom., Sonenberg N; Goodman Cancer Institute, McGill University, Montreal, Canada; Department of Biochemistry, McGill University, Montreal, Canada., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Sissler M; ARNA - UMR5320 CNRS - U1212 INSERM, Université de Bordeaux, IECB, Pessac, France., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK. Electronic address: gauravvarshney@omrf.org., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100938. Date of Electronic Publication: 2023 Jul 13.