Your browser doesn't support javascript.
loading
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona, Barbara; Maroofian, Reza; Bellacchio, Emanuele; Najafi, Maryam; Thompson, Kyle; Alahmad, Ahmad; He, Langping; Ahangari, Najmeh; Rad, Abolfazl; Shahrokhzadeh, Sima; Bahena, Paulina; Mittag, Falk; Traub, Frank; Movaffagh, Jebrail; Amiri, Nafise; Doosti, Mohammad; Boostani, Reza; Shirzadeh, Ebrahim; Haaf, Thomas; Diodato, Daria; Schmidts, Miriam; Taylor, Robert W; Karimiani, Ehsan Ghayoor.
Afiliação
  • Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany. barbara.vona@uni-wuerzburg.de.
  • Maroofian R; Department of Otorhinolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre (THRC), Eberhard Karls University Tübingen, 72076, Tübingen, Germany. barbara.vona@uni-wuerzburg.de.
  • Bellacchio E; Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Najafi M; Genetics and Rare Diseases, Research Division, 'Bambino Gesù' Children Hospital, Rome, Italy.
  • Thompson K; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.
  • Alahmad A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Ahangari N; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
  • Rad A; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Shahrokhzadeh S; Next Generation Genetic Clinic, Mashhad, Iran.
  • Bahena P; Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.
  • Mittag F; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.
  • Traub F; Next Generation Genetic Clinic, Mashhad, Iran.
  • Movaffagh J; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Amiri N; Department of Orthopaedic Surgery, University Hospital of Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany.
  • Doosti M; Department of Orthopaedic Surgery, University Hospital of Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany.
  • Boostani R; Targeted Drug Delivery Research Center, Pharmaceutical Technology Institute, University of Medical Sciences, Mashhad, Iran.
  • Shirzadeh E; Targeted Drug Delivery Research Center, Pharmaceutical Technology Institute, University of Medical Sciences, Mashhad, Iran.
  • Haaf T; Next Generation Genetic Clinic, Mashhad, Iran.
  • Diodato D; Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Schmidts M; Sabzevar University of Medical Sciences, Sabzevar, Iran.
  • Taylor RW; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Karimiani EG; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesu' Children's Research Hospital, Rome, Italy.
BMC Med Genet ; 19(1): 196, 2018 11 12.
Article em En | MEDLINE | ID: mdl-30419932
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Desenvolvimento Ósseo / Catarata / Neuropatias Hereditárias Sensoriais e Autônomas / Doença de Leigh / Doenças Mitocondriais / Perda Auditiva Neurossensorial / Isoleucina-tRNA Ligase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Desenvolvimento Ósseo / Catarata / Neuropatias Hereditárias Sensoriais e Autônomas / Doença de Leigh / Doenças Mitocondriais / Perda Auditiva Neurossensorial / Isoleucina-tRNA Ligase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article