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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S; Al-Maawali, Almundher; Srinivasan, Varunvenkat M; Al-Thihli, Khalid; Schaefer, G Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B; Basinger, Alice A; Pedersen, Signe Vandal; Pearson, Toni S; Grange, Dorothy K; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet.
Afiliación
  • 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.
Genet Med ; 25(11): 100938, 2023 11.
Article en En | MEDLINE | ID: mdl-37454282
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pez Cebra / ARN de Transferencia Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pez Cebra / ARN de Transferencia Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá