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Tytuł :
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Autorzy :
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 Buenos Aires, Argentina; FLENI Neurological Research Institute, C1428 AQK Buenos Aires, Argentina.
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 Neurosurgery, Queen Square, London WC1N 3BG, UK. Electronic address: .
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Corporate Authors :
SYNAPS Study Group; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 412-421.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Alleles*
Genes, Recessive*
Brain Diseases/*genetics
Calcinosis/*genetics
Cell Adhesion Molecules/*genetics
Adolescent ; Adult ; Animals ; Brain Diseases/diagnostic imaging ; Calcinosis/diagnostic imaging ; Child ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree
Czasopismo naukowe
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