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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Schottlaender, Lucia V; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou-Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P M; Livingston, John H; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard-Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry.
Afiliación
  • Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, UK; Argentine National Scientific and Technological Research Council (CONICET), C1425FQB
  • Abeti R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
  • Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
  • Macmillan C; Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA.
  • Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • O'Callaghan B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • McKinley J; Department of Neurology, Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles St, Dublin 7 DO7W7XF, Ireland; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
  • Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • Forbes R; Neurology Centre, Southern HSC Trust, Craigavon Area Hospital, Portadown BT63 5QQ, UK.
  • Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Livingston JH; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds LS1 3EX, UK.
  • Kalmar B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • Swayne O; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Hotton G; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Pittman A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • Mendes de Oliveira JR; Universidade Federal de Pernambuco, Departamento de Neuropsiquiatria, Recife 50670-901, Brazil.
  • de Grandis M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
  • Richard-Loendt A; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Launchbury F; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
  • Althonayan J; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
  • McDonnell G; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
  • Carr A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
  • Khan S; CENTOGENE AG, Rostock 18055, Germany.
  • Beetz C; CENTOGENE AG, Rostock 18055, Germany.
  • Bisgin A; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
  • Tug Bozdogan S; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
  • Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Torti E; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
  • Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
  • Giunti P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
  • Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University, Belfast BT9 7AE, UK.
  • Brandner S; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
  • Aurrand-Lions M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory and Clinical Service, The National Hospital for Neurology and Neurosurger
Am J Hum Genet ; 106(3): 412-421, 2020 03 05.
Article en En | MEDLINE | ID: mdl-32142645
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Calcinosis / Moléculas de Adhesión Celular / Edad de Inicio / Alelos / Genes Recesivos Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Calcinosis / Moléculas de Adhesión Celular / Edad de Inicio / Alelos / Genes Recesivos Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Año: 2020 Tipo del documento: Article