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RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes, Marisa I; Green, Lydia M C; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L; Salomons, Gajja S; van der Knaap, Marjo S; Wolf, Nicole I.
Afiliação
  • Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
  • Green LMC; Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds, United Kingdom.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
  • Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy.
  • Aiello C; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesu' Children's Hospital IRCCS, Rome, Italy.
  • Smith D; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
  • Salsano E; Unit of Rare Neurodegenerative and Neurometabolic Disease, Fondazione IRCCS Istituto Neurologica "C.Besta", Milano, Italy.
  • Beerepoot S; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.
  • Hertecant J; Amsterdam Neuroscience, Vrije Universiteit, Amsterdam, The Netherlands.
  • von Spiczak S; Paediatric Genetic and Metabolic Service, Tawam Hospital, Al Ain, United Arab Emirates.
  • Livingston JH; DRK-Northern German Epilepsy Centre for Children and Adolescents, Schwentinental-Raisdorf, Germany.
  • Emrick L; Department of Pediatrics II, University Medical Center Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany.
  • Fraser J; Department of Paediatric Neurology, Leeds Teaching Hospitals Trust, Leeds, United Kingdom.
  • Russell L; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Bernard G; Division of Neurology and Developmental Neurosciences, Baylor College of Medicine, Houston, Texas.
  • Magri S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Di Bella D; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Health System, Washington, District of Columbia.
  • Taroni F; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.
  • Koenig MK; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.
  • Moroni I; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
  • Cappuccio G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada.
  • Brunetti-Pierri N; MyeliNeuroGene Laboratory, Research Institutes of the McGill University Health Centre, Montreal, Canada.
  • Rhee J; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Mendelsohn BA; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Helbig I; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Helbig K; Department of Paediatrics, University of Texas McGovern Medical School, Houston, Texas.
  • Muhle H; Department of Paediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
  • Ismayl O; Department of Translational Medicine, Federico II University, Pozzuoli, Naples, Italy.
  • Vanderver AL; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Salomons GS; Department of Translational Medicine, Federico II University, Pozzuoli, Naples, Italy.
  • van der Knaap MS; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Wolf NI; Department of Neurology, Children's National Health Systems, Washington, District of Columbia.
Ann Clin Transl Neurol ; 7(1): 83-93, 2020 01.
Article em En | MEDLINE | ID: mdl-31814314
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arginina-tRNA Ligase / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Estudos de Associação Genética Tipo de estudo: Clinical_trials / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arginina-tRNA Ligase / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Estudos de Associação Genética Tipo de estudo: Clinical_trials / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos