Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Autor: Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Zuberi SM; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Stewart K; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., McLellan A; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh, UK., O'Regan M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., MacLeod S; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Jollands A; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Kirkpatrick M; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Brunklaus A; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Pilz DT; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Shetty J; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Sciennes Road, Edinburgh, UK., Dorris L; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Abu-Arafeh I; Department of Paediatrics, Forth Valley Royal Hospital, Larbert, UK., Andrew J; Department of Paediatrics, University Hospital Wishaw, Netherton Street, Wishaw, UK., Brink P; Paediatric Neurology, Tayside Children's Hospital, Dundee, UK., Callaghan M; Department of Paediatrics, University Hospital Wishaw, Netherton Street, Wishaw, UK., Cruden J; Department of Paediatrics, Victoria Hospital, Kirkcaldy, UK., Diver LA; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Findlay C; Department of Paediatrics, University Hospital Crosshouse, Kilmarnock, UK., Gardiner S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospitals, Glasgow, UK., Grattan R; Department of Paediatrics, Forth Valley Royal Hospital, Larbert, UK., Lang B; Nuffield Department of Clinical Neurosciences, Level 6, West Wing, John Radcliffe Hospital, Oxford, UK., MacDonnell J; Department of Paediatrics, Borders General Hospital, Melrose, UK., McKnight J; Department of Paediatrics, Dumfries and Galloway Royal Infirmary, Dumfries, UK., Morrison CA; Department of Paediatrics, University Hospital Crosshouse, Kilmarnock, UK., Nairn L; Department of Paediatrics, Royal Alexandra Hospital, Paisley, UK., Slean MM; College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Stephen E; Department of Paediatrics, Royal Aberdeen Children's Hospital, Aberdeen, UK., Webb A; Department of Paediatrics, Raigmore Hospital, Inverness, UK., Vincent A; Nuffield Department of Clinical Neurosciences, Level 6, West Wing, John Radcliffe Hospital, Oxford, UK., Wilson M; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2019 Aug 01; Vol. 142 (8), pp. 2303-2318.

Interconverting conformations of slipped-DNA junctions formed by trinucleotide repeats affect repair outcome.

Autor: Slean MM; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Reddy K, Wu B, Nichol Edamura K, Kekis M, Nelissen FH, Aspers RL, Tessari M, Schärer OD, Wijmenga SS, Pearson CE

Publikováno v: Biochemistry [Biochemistry] 2013 Feb 05; Vol. 52 (5), pp. 773-85. Date of Electronic Publication: 2013 Jan 22.

Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues.

Autor: Tomé S; Genetics and Genome Biology, The Hospital for Sick Children, TMDT Building 101 College St., 15th Floor, Room 15-312 East Tower, Toronto, ON, M5G 1L7, Canada., Simard JP, Slean MM, Holt I, Morris GE, Wojciechowicz K, te Riele H, Pearson CE

Publikováno v: DNA repair [DNA Repair (Amst)] 2013 Jan 01; Vol. 12 (1), pp. 46-52. Date of Electronic Publication: 2012 Nov 24.

Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired.

Autor: Panigrahi GB; Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada M5G 1L7., Slean MM, Simard JP, Gileadi O, Pearson CE

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2010 Jul 13; Vol. 107 (28), pp. 12593-8. Date of Electronic Publication: 2010 Jun 22.