Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Sheerin, UM"'
Autor:
Jansen, IE, Ye, H, Heetveld, S, Lechler, MC, Michels, H, Seinstra, RI, Lubbe, SJ, Drouet, V, Lesage, S, Majounie, E, Gibbs, JR, Nalls, MA, Ryten, M, Botia, JA, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, AK, Li, Y, Yogi, P, Amin, N, van Duijn, CM, Morris, HR, Brice, A, Singleton, AB, David, DC, Nollen, EA, Jain, S, Shulman, JM, Heutink, P, Hernandez, DG, Arepalli, S, Brooks, J, Price, R, Nicolas, A, Chong, S, Cookson, MR, Dillman, A, Moore, M, Traynor, BJ, Plagnol, V, Nicholas, WW, Sheerin, UM, Jose, MB, Charlesworth, G, Gardner, M, Guerreiro, R, Trabzuni, D, Hardy, J, Sharma, M, Saad, M, Javier, S-S, Schulte, C, Corvol, JC, Dürr, A, Vidailhet, M, Sveinbjörnsdóttir, S, Barker, R, Caroline, HW-G, Ben-Shlomo, Y, Berendse, HW, van Dijk, KD, Berg, D, Brockmann, K, Wurster, I, Mätzler, W, Gasser, T, Martinez, M, de Bie, RMA, Biffi, A, Velseboer, D
Background: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6898845d66f7113c3c3c6fc803df251a
https://eprints.whiterose.ac.uk/112351/1/art%3A10.1186%2Fs13059-017-1147-9.pdf
https://eprints.whiterose.ac.uk/112351/1/art%3A10.1186%2Fs13059-017-1147-9.pdf
Autor:
Pichler I, Del Greco M. F, Gögele M, Lill CM, Bertram L, Do CB, Eriksson N, Foroud T, Myers RH, PD GWAS Consortium, Nalls M, Keller MF, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium 2, Benyamin B, Whitfield JB, Genetics of Iron Status Consortium, Pramstaller PP, Hicks AA, Thompson JR, Minelli C., Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón Sánchez J, Schulte C, Lesage S, Arepalli S, Barker R, Ben Shlomo Y, Berendse HW, Berg D, Bhatia K, de Bie RM, Biffi A, Bloem B, Bochdanovits Z, Bonin M, Bras JM, Brockmann K, Brooks J, Burn DJ, Charlesworth G, Chen H, Chinnery PF, Chong S, Clarke CE, Cookson MR, Cooper JM, Corvol JC, Counsell C, Damier P, Dartigues JF, Deloukas P, Deuschl G, Dexter DT, van Dijk KD, Dillman A, Durif F, Dürr A, Edkins S, Evans JR, Foltynie T, Gao J, Gardner M, Gibbs JR, Goate A, Gray E, Guerreiro R, Harris C, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang X, Huber H, Hudson G, Hunt SE, Illig T, Lambert JC, Langford C, Lees A, Lichtner P, Limousin P, Lopez G, Lorenz D, McNeill A, Moorby C, Moore M, Morris HR, Morrison KE, Mudanohwo E, O'Sullivan SS, Pearson J, Perlmutter JS, Pollak P, Post B, Potter S, Ravina B, Revesz T, Riess O, Rivadeneira F, Rizzu P, Ryten M, Sawcer S, Schapira A, Scheffer H, Shaw K, Shoulson I, Sidransky E, Smith C, Spencer CC, Stockton JD, Strange A, Talbot K, Tanner CM, Tashakkori Ghanbaria A, Trabzuni D, Traynor BJ, Uitterlinden AG, Velseboer D, Vidailhet M, Walker R, van de Warrenburg B, Wickremaratchi M, Williams N, Williams Gray CH, Winder Rhodes S, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW, Donnelly P, Barroso I, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Band G, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Pearson R, Su Z, Vukcevic D, Gwilliam R, Blackburn H, Bumpstead SJ, Dronov S, Gillman M, Hammond N, Jayakumar A, McCann OT, Liddle J, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, McCarthy MI, Ouwehand WH, Radhakrishnan A, Sambrook J, Toniolo D, Camaschella C, Metspalu A, Esko T, Gieger C, Ried J, Meitinger T, Oexle K, Winkelmann J, Swinkels D, Vermeulen S, van Duijn C, Broer L, Beilby J, Hui J, Anderson D, Visscher P, Martin N., TRAGLIA, MICHELA
Publikováno v:
Pichler, I, Del Greco, M F, Gögele, M, Lill, C M, Bertram, L, Do, C B, Eriksson, N, Foroud, T, Myers, R H, Benyamin, B, Withfield, J B, Pramstaller, P P, Hicks, A A, Thompson, J R, Minelli, C & Bochdanovits, Z 2013, ' Serum iron levels and the risk of Parkinson disease: a mendelian randomization study ', PLoS Medicine, vol. 10, no. 6, e1001462, pp. 1-13 . https://doi.org/10.1371/journal.pmed.1001462
PLOS Medicine, Vol. 10, No 6 (2013) P. e1001462
PLoS Medicine, 10(6):e1001462, 1-13. Nature Publishing Group
PLoS Medicine, Vol 10, Iss 6, p e1001462 (2013)
PLoS Medicine, 10(6):e1001462, 1-13. Public Library of Science
PLoS medicine, 10(6). Public Library of Science
PLoS Medicine
PLOS Medicine, Vol. 10, No 6 (2013) P. e1001462
PLoS Medicine, 10(6):e1001462, 1-13. Nature Publishing Group
PLoS Medicine, Vol 10, Iss 6, p e1001462 (2013)
PLoS Medicine, 10(6):e1001462, 1-13. Public Library of Science
PLoS medicine, 10(6). Public Library of Science
PLoS Medicine
In this study, Mendelian randomization was used to study genes known to modify iron levels, and the effect of iron on Parkinson's disease (PD) risk was estimated. Based on estimates of the genetic effects on both iron and PD obtained from the largest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1ff83d9ac49e91aea223736fdcdb62
https://hdl.handle.net/11541.2/130162
https://hdl.handle.net/11541.2/130162
Autor:
Carvajal González, A, Leite, Mi, Waters, P, Woodhall, M, Coutinho, E, Balint, B, Lang, B, Pettingill, P, Carr, A, Sheerin, Um, Press, R, Lunn, Mp, Lim, M, Maddison, P, Meinck, Hm, Vandenberghe, W, Vincent, A, Glycine receptor antibody study group, Durelli, Luca
Publikováno v:
Brain
See Martinez-Martinez et al. (doi:10.1093/brain/awu153) for a scientific commentary on this article. Carvajal-González et al. describe the first prospective cohort of patients with glycine receptor antibodies. The majority have progressive encephalo
Autor:
Wray, S, Self, M, Lewis, PA, Taanman, JW, Ryan, NS, Mahoney, CJ, Liang, Y, Devine, MJ, Sheerin, UM, Houlden, H, Morris, HR, Healy, D, Marti-Masso, JF, Preza, E, Barker, S, Sutherland, M, Corriveau, RA, D'Andrea, M, Schapira, AHV, Uitti, RJ, Guttman, M, Opala, G, Jasinska-Myga, B, Puschmann, A, Nilsson, C, Espay, AJ, Slawek, J, Gutmann, L, Boeve, BF, Boylan, K, Jon Stoessl, A, Ross, OA, Maragakis, NJ, Van Gerpen, J, Gerstenhaber, M, Gwinn, K, Dawson, TM, Isacson, O, Marder, KS, Clark, LN, Przedborski, SE, Finkbeiner, S, Rothstein, JD, Wszolek, ZK, Rossor, MN, Hardy, J, Gusella, JF, MacDonald, ME, Wheeler, VC, Ross, CA, Akimov, S, Arjomand, J, Thompson, LM, King, A, Hermanowicz, N, Winokur, S, Svendsen, CN, Mattis, V, Onorati, M, Cattaneo, E, Allen, ND, Kemp, PJ, Kim, KS, Przedborski, S, Feng, J, Lee, VMY, Trojanowski, JQ, James Surmeier, D, Henderson, CE, Maniatis, T, Eggan, K, Cudowicz, ME
Publikováno v:
Wray, S; Self, M; Lewis, PA; Taanman, JW; Ryan, NS; Mahoney, CJ; et al.(2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS ONE, 7(8). doi: 10.1371/journal.pone.0043099. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/0hr9m7bt
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::858a8a3006d4e18ea535d6f3ffd2375b
http://www.escholarship.org/uc/item/0hr9m7bt
http://www.escholarship.org/uc/item/0hr9m7bt
Autor:
Kojovic M, Sheerin UM, Rubio-Agusti I, Saha A, Bras J, Gibbons V, Palmer R, Houlden H, Hardy J, Wood NW, Bhatia KP, Kojovic, Maja, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Saha, Anirban, Bras, Jose, Gibbons, Vaneesha, Palmer, Rodger, Houlden, Henry, Hardy, John
Publikováno v:
Movement Disorders; Dec2012, Vol. 27 Issue 14, p1829-1830, 2p
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Mar2008, Vol. 79 Issue 3, p360-360, 1/4p
Autor:
Sheerin UM; National Neurofibromatosis Service, Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK., Holmes P; National Neurofibromatosis Service, Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK., Childs L; National Neurofibromatosis Service, Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.; Department of Radiology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK., Roy A; National Neurofibromatosis Service, Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.; Department of Radiology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK., Ferner RE; National Neurofibromatosis Service, Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK.; Department of Clinical Neuroscience, Institute of Psychiatry and Neuroscience, King's College London, London, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3009-3015. Date of Electronic Publication: 2022 Aug 10.
Autor:
Giri A; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Mok KY; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Jansen I; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Sharma M; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany., Tesson C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Mangone G; Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Bras JM; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Shulman JM; Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sheerin UM; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Díez-Fairen M; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain., Pastor P; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain., Martí MJ; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Ezquerra M; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Tolosa E; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Correia-Guedes L; Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal., Ferreira J; Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Amin N; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands., van Duijn CM; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands., van Rooij J; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands., Uitterlinden AG; Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands., Kraaij R; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands., Nalls M; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Simón-Sánchez J; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: javier.simon-sanchez@dzne.de.
Publikováno v:
Neurobiology of aging [Neurobiol Aging] 2017 Feb; Vol. 50, pp. 167.e11-167.e13. Date of Electronic Publication: 2016 Oct 11.
Autor:
Lynch DS; Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK The Leonard Wolfson Experimental Neurology Centre, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London UK., Jaunmuktane Z; Division of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK., Sheerin UM; Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK., Phadke R; Division of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK., Brandner S; Division of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK., Milonas I; Aristotle University of Thessaloniki, Thessaloniki, Greece., Dean A; Department of Neuropathology, Addenbrooke's Hospital, Cambridge, UK., Bajaj N; Department of Neurology, Queens Medical Centre, Nottingham, UK., McNicholas N; Department of Neurology, Cork University Hospital, Wilton, Cork, Ireland., Costello D; Department of Neurology, Cork University Hospital, Wilton, Cork, Ireland., Cronin S; Department of Neurology, Cork University Hospital, Wilton, Cork, Ireland., McGuigan C; University College Dublin, St. Vincent's University Hospital, Dublin, Ireland., Rossor M; Department of Neurodegeneration, Dementia Research Centre, London, UK., Fox N; Department of Neurodegeneration, Dementia Research Centre, London, UK., Murphy E; Department of Neuroinflammation, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK., Chataway J; Department of Neuroinflammation, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK., Houlden H; Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2016 May; Vol. 87 (5), pp. 512-9. Date of Electronic Publication: 2015 May 02.
Autor:
Abbas MM; Parkinson's and Ageing Research Foundation Bangalore India., Govindappa ST; Parkinson's and Ageing Research Foundation Bangalore India., Sheerin UM; Department of Molecular Neuroscience UCL Institute of Neurology University College London London United Kingdom., Bhatia KP; UCL Institute of Neurology National Hospital for Neurology and Neurosurgery London United Kingdom., Muthane UB; Parkinson's and Ageing Research Foundation Bangalore India.
Publikováno v:
Movement disorders clinical practice [Mov Disord Clin Pract] 2016 Apr 26; Vol. 4 (1), pp. 132-135. Date of Electronic Publication: 2016 Apr 26 (Print Publication: 2017).