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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns, David T; Donkervoort, Sandra; Müller, Juliane S; Knierim, Ellen; Bharucha-Goebel, Diana; Faqeih, Eissa Ali; Bell, Stephanie K; AlFaifi, Abdullah Y; Monies, Dorota; Millan, Francisca; Retterer, Kyle; Dyack, Sarah; MacKay, Sara; Morales-Gonzalez, Susanne; Giunta, Michele; Munro, Benjamin; Hudson, Gavin; Scavina, Mena; Baker, Laura; Massini, Tara C; Lek, Monkol; Hu, Ying; Ezzo, Daniel; AlKuraya, Fowzan S; Kang, Peter B; Griffin, Helen; Foley, A Reghan; Schuelke, Markus; Horvath, Rita; Bönnemann, Carsten G.
Affiliation
  • Burns DT; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Müller JS; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Knierim E; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Charitéplatz 1, 10117 Berlin, Germany.
  • Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA; Division of Neurology, Children's National Medical Center, Washington, DC 20010, USA.
  • Faqeih EA; Section of Medical Genetics, Department of Pediatric Subspecialties, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Bell SK; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  • AlFaifi AY; Section of Medical Genetics, Department of Pediatric Subspecialties, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Millan F; GeneDx, Gaithersburg, MD 20877, USA.
  • Retterer K; GeneDx, Gaithersburg, MD 20877, USA.
  • Dyack S; Departments of Pediatrics and Medicine, Dalhousie University, Halifax, NS B3H 4R2, Canada.
  • MacKay S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, NS B3K 6R8, Canada.
  • Morales-Gonzalez S; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Charitéplatz 1, 10117 Berlin, Germany.
  • Giunta M; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Munro B; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Hudson G; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Scavina M; Division of Neurology, Nemours/DuPont Hospital for Children, Wilmington, DE 19803, USA.
  • Baker L; Division of Genetics, Nemours/DuPont Hospital for Children, Wilmington, DE 19803, USA.
  • Massini TC; Department of Radiology, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  • Lek M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 01242, USA.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Ezzo D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • AlKuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Kang PB; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
  • Griffin H; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Schuelke M; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Charitéplatz 1, 10117 Berlin, Germany.
  • Horvath R; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK. Electronic address: rita.horvath@ncl.ac.uk.
  • Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Am J Hum Genet ; 102(5): 858-873, 2018 05 03.
Article in En | MEDLINE | ID: mdl-29727687
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Cord / Genetic Variation / Cerebellum / RNA-Binding Proteins / Exosomes / Exosome Multienzyme Ribonuclease Complex / Motor Neurons Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2018 Document type: Article Affiliation country: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Cord / Genetic Variation / Cerebellum / RNA-Binding Proteins / Exosomes / Exosome Multienzyme Ribonuclease Complex / Motor Neurons Type of study: Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Hum Genet Year: 2018 Document type: Article Affiliation country: United kingdom