Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Soutar, MPM"'
Autor:
Schottlaender, LV, Abeti, R, Jaunmuktane, Z, Macmillan, C, Chelban, V, O'Callaghan, B, McKinley, J, Maroofian, R, Efthymiou, S, Athanasiou-Fragkouli, A, Forbes, R, Soutar, MPM, Livingston, JH, Kalmar, B, Swayne, O, Hotton, G, SYNAPS Study Group, Pittman, A, Mendes de Oliveira, JR, de Grandis, M, Richard-Loendt, A, Launchbury, F, Althonayan, J, McDonnell, G, Carr, A, Khan, S, Beetz, C, Bisgin, A, Tug Bozdogan, S, Begtrup, A, Torti, E, Greensmith, L, Giunti, P, Morrison, PJ, Brandner, S, Aurrand-Lions, M, Houlden, H
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9b91736092876a001847343472b06e69
https://openaccess.sgul.ac.uk/id/eprint/111822/1/mmc4.pdf
https://openaccess.sgul.ac.uk/id/eprint/111822/1/mmc4.pdf
Autor:
de Talhouët C; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA., Esteras N; Department of Biochemistry and Molecular Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain., Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. ben.ocallaghan@ucl.ac.uk.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. ben.ocallaghan@ucl.ac.uk., Plun-Favreau H; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. h.plun-favreau@ucl.ac.uk.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. h.plun-favreau@ucl.ac.uk.
Publikováno v:
Scientific reports [Sci Rep] 2024 May 22; Vol. 14 (1), pp. 11721. Date of Electronic Publication: 2024 May 22.
Autor:
Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Melandri D; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA., Annuario E; Department of Basic and Clinical Neuroscience, King's College, London, UK., Monaghan AE; UCL Alzheimer's Research UK, Drug Discovery Institute, London, UK.; UCL Dementia Research Institute, London, UK., Welsh NJ; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., D'Sa K; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Francis Crick Institute, London, UK., Guelfi S; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK., Zhang D; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA., Pittman A; Genetics Research Centre, Molecular and Clinical Sciences, St Georges University, London, UK., Trabzuni D; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Verboven AHA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands.; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands., Pan KS; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK., Kia DA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK., Bictash M; UCL Alzheimer's Research UK, Drug Discovery Institute, London, UK.; UCL Dementia Research Institute, London, UK., Gandhi S; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Francis Crick Institute, London, UK.; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Cookson MR; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA., Kasri NN; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands.; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500 HB Nijmegen, The Netherlands., Wood NW; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK., Singleton AB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hardy J; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; UCL Dementia Research Institute, London, UK., Whiting PJ; UCL Alzheimer's Research UK, Drug Discovery Institute, London, UK.; UCL Dementia Research Institute, London, UK., Blauwendraat C; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Whitworth AJ; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Manzoni C; Department of Pharmacology, UCL School of Pharmacy, London, UK., Ryten M; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, UK., Lewis PA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.; Department of Comparative Biomedical Sciences, Royal Veterinary College, LondonUK., Plun-Favreau H; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Dec 19; Vol. 145 (12), pp. 4349-4367.
Autor:
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: h.houlden@ucl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 412-421.
Autor:
Soutar MPM; Neurodegenerative Disease, UCL Institute of Neurology , London , UK., Kempthorne L; Neurodegenerative Disease, UCL Institute of Neurology , London , UK., Annuario E; Neurodegenerative Disease, UCL Institute of Neurology , London , UK., Luft C; MRC Laboratory for Molecular Cell Biology, UCL , London , UK., Wray S; Neurodegenerative Disease, UCL Institute of Neurology , London , UK., Ketteler R; MRC Laboratory for Molecular Cell Biology, UCL , London , UK., Ludtmann MHR; Comparative Biomedical Sciences, Royal Veterinary College , London , UK., Plun-Favreau H; Neurodegenerative Disease, UCL Institute of Neurology , London , UK.
Publikováno v:
Autophagy [Autophagy] 2019 Nov; Vol. 15 (11), pp. 2002-2011. Date of Electronic Publication: 2019 May 07.
AKT signalling selectively regulates PINK1 mitophagy in SHSY5Y cells and human iPSC-derived neurons.
Autor:
Soutar MPM; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. m.soutar@ucl.ac.uk., Kempthorne L; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Miyakawa S; Biomolecular Research Laboratories, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan., Annuario E; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Melandri D; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Harley J; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., O'Sullivan GA; CereVance Ltd. 418 Science Park, Milton Rd, Cambridge, CB4 0PZ, UK., Wray S; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Hancock DC; The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, UK., Cookson MR; Laboratory of Neurogenetics, NIH, Building 35, Room 1A116, 35 Convent Drive, Bethesda, MD, 20814, USA., Downward J; The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, UK., Carlton M; CereVance Ltd. 418 Science Park, Milton Rd, Cambridge, CB4 0PZ, UK., Plun-Favreau H; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. h.plun-favreau@ucl.ac.uk.
Publikováno v:
Scientific reports [Sci Rep] 2018 Jun 11; Vol. 8 (1), pp. 8855. Date of Electronic Publication: 2018 Jun 11.
Autor:
Manzoni C; School of Pharmacy, University of Reading, Whiteknights, Reading RG6 6AP, U.K. c.manzoni@reading.ac.uk.; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K., Mamais A; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, U.S.A., Dihanich S; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K., Soutar MPM; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K., Plun-Favreau H; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K., Bandopadhyay R; Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield Street London WC1N 1PJ, U.K., Abeti R; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; Department of Molecular Neuroscience, UCL Institute of Neurology, Ataxia Centre, Queen Square, London WC1N 3BG, United Kingdom., Giunti P; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K.; Department of Molecular Neuroscience, UCL Institute of Neurology, Ataxia Centre, Queen Square, London WC1N 3BG, United Kingdom., Hardy J; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K., R Cookson M; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, U.S.A., Tooze SA; The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, U.K., Lewis PA; School of Pharmacy, University of Reading, Whiteknights, Reading RG6 6AP, U.K.; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, U.K.
Publikováno v:
Bioscience reports [Biosci Rep] 2018 Apr 20; Vol. 38 (2). Date of Electronic Publication: 2018 Apr 20 (Print Publication: 2018).
Autor:
Dadak S; Division of Molecular and Clinical Medicine, School of Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK., Beall C; Division of Molecular and Clinical Medicine, School of Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK; Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK., Vlachaki Walker JM; Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, RILD Building, Barrack Road, Exeter EX2 5DW, UK., Soutar MPM; Division of Molecular and Clinical Medicine, School of Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK., McCrimmon RJ; Division of Molecular and Clinical Medicine, School of Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK., Ashford MLJ; Division of Molecular and Clinical Medicine, School of Medicine, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK. Electronic address: m.l.j.ashford@dundee.ac.uk.
Publikováno v:
Neuroscience [Neuroscience] 2017 Mar 27; Vol. 346, pp. 29-42. Date of Electronic Publication: 2017 Jan 09.
Autor:
Manzoni C; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address: c.manzoni@ucl.ac.uk., Mamais A; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; Reta Lila Weston Institute and Queen Square Brain Bank, UCL Institute of Neurology, 1 Wakefield Street, London, WC1N 1PJ, UK., Dihanich S; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Abeti R; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Soutar MPM; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Plun-Favreau H; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Giunti P; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Tooze SA; London Research Institute, Cancer Research UK, Lincoln's Inn Fields, London, WC2A 3LY, UK., Bandopadhyay R; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; Reta Lila Weston Institute and Queen Square Brain Bank, UCL Institute of Neurology, 1 Wakefield Street, London, WC1N 1PJ, UK., Lewis PA; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; School of Pharmacy, University of Reading, Whiteknights, Reading, RG6 6AP, UK. Electronic address: patrick.lewis@ucl.ac.uk.
Publikováno v:
Biochimica et biophysica acta [Biochim Biophys Acta] 2013 Dec; Vol. 1833 (12), pp. 2900-2910. Date of Electronic Publication: 2013 Aug 01.