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Expanded phenotype of AARS1-related white matter disease.
Helman, Guy; Mendes, Marisa I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E C; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Brösse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B; Salomons, Gajja S; Simons, Cas; Bernard, Geneviève; van der Knaap, Marjo S; Vanderver, Adeline; Husain, Ralf A.
Affiliation
  • Helman G; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.
  • Mendes MI; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Nicita F; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Darbelli L; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Sherbini O; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Moore T; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Derksen A; Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Amy Pizzino; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Carrozzo R; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Torraco A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Catteruccia M; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Aiello C; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
  • Goffrini P; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Figuccia S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Smith DEC; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Hadzsiev K; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Hahn A; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Biskup S; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Brösse I; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Kotzaeridou U; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Gauck D; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Grebe TA; Department of Medical Genetics, University of Pécs, Pécs, Hungary.
  • Elmslie F; Department of Child Neurology, Justus-Liebig-University, Giessen, Germany.
  • Stals K; Praxis fuer Humangenetik and CeGaT GmbH, Tuebingen, Germany.
  • Gupta R; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Bertini E; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Thiffault I; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Taft RJ; Division of Genetics and Metabolism, Department of Child Health, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Schiffmann R; South West Thames Regional Genetics Service, St George's University Hospital, London, UK.
  • Brandl U; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Haack TB; Department of Neurology, Birmingham Children's Hospital, Birmingham, UK.
  • Salomons GS; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Simons C; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.
  • Bernard G; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA.
  • van der Knaap MS; School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA.
  • Vanderver A; Illumina, Inc, San Diego, CA, USA.
  • Husain RA; Baylor Scott & White Research Institute, Dallas, TX, USA.
Genet Med ; 23(12): 2352-2359, 2021 12.
Article in En | MEDLINE | ID: mdl-34446925
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leukoencephalopathies Type of study: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leukoencephalopathies Type of study: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: