Výsledky vyhledávání - "M M Wickremaratchi"

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Autor: Mina Ryten, Daniah Trabzuni, J. Ding, Bart Post, Albert Hofman, Jean-Charles Lambert, Olaf Riess, Michele T.M. Hu, Andrew B. Singleton, Stephen Sawcer, X. Huang, Caroline H. Williams-Gray, H. R. Zielke, C Smith, Peter Lichtner, B.P.C. van de Warrenburg, Bernard Ravina, F. Durif, Ellen Sidransky, Mike A. Nalls, Karen E. Morrison, J. R. Gibbs, Robert L. Johnson, Peter Heutink, David J. Burn, Michael Bonin, Sarah Edkins, T. Gasser, Luigi Ferrucci, H. Chau, Sampath Arepalli, Chris C. A. Spencer, Yoav Ben-Shlomo, Honglei Chen, Caroline M. Tanner, Zoltán Bochdanovits, Ruth Chia, Heiko Huber, Kari Stefansson, Dena G. Hernandez, Jean-Marc Taymans, Veerle Baekelandt, Iakov N. Rudenko, Evy Lobbestael, Huw R. Morris, A. Goate, C. Moorby, Lois E. Greene, Manu Sharma, Emma Gray, Ira Shoulson, Janet Brooks, Juan C. Troncoso, K. Shaw, Laura Civiero, Alessandra Biffi, Hans Scheffer, Matthew Moore, Alan B. Zonderman, S. Sveinbjornsdottir, Avazeh Tashakkori-Ghanbaria, Jean-Christophe Corvol, Vincent Plagnol, H. Petursson, Alice Kaganovich, M M Wickremaratchi, Nigel Williams, Thomas Foltynie, Henk W. Berendse, P. Damier, A. Strange, J. M. Cooper, Simon C. Potter, Patricia Limousin, Jiali Gao, Sophie Winder-Rhodes, M. Van Der Brug, Marie Vidailhet, Elisa Greggio, Nicholas W. Wood, Kevin Talbot, M. R. Cookson, Johanna Huttenlocher, J.J. van Hilten, Dan L. Longo, Alisdair McNeill, François Tison, K.D. van Dijk, David N. Hauser, Allissa Dillman, Suneil K. Kalia, Lorraine V. Kalia, Patrick F. Chinnery, Alexis Brice, Kelechi Ndukwe, J. F. Dartigues, M. Gardner, Mohamad Saad, Palmi V. Jonsson, Kailash P. Bhatia, Roger A. Barker, André G. Uitterlinden, Maria Martinez, R. Walker, Elisa Majounie, Fernando Rivadeneira, Joel S. Perlmutter, Panagiotis Deloukas, Bryan J. Traynor, Ese E. Mudanohwo, Grisel Lopez, UM Sheerin, Joanne D. Stockton, Thomas Illig, Andres M. Lozano, Rita Guerreiro, David T. Dexter, Andrew J. Lees, Sean Chong, Gavin Hudson, Cordelia Langford, Günther Deuschl, Ravindran Kumaran, Janice L. Holton, Tamas Revesz, B.R. Bloem, Alexandra Beilina, Clare Elizabeth Harris, Daniela Berg, Anthony H.V. Schapira, Suzanne Lesage, Sean S. O'Sullivan, Albert R. Hollenbeck, James A. Pearson, R. M. A. de Bie, Delia Lorenz, Sarah E. Hunt, Richard O'Brien, Gavin Charlesworth, Maciej B. Olszewski, Stacy Steinberg, Kathrin Brockmann, Carl E Clarke, Patrizia Rizzu, Claudia Schulte, Hreinn Stefansson, Daan C. Velseboer, Omar Gustafsson, Jonathan R. Evans, Alexandra Durr, Javier Simón-Sánchez, Pierre Pollak, H. Z. Munchen, Jose Bras, Carl Counsell, John Hardy

Publikováno v: Proceedings of the National Academy of Sciences, 111(7), 2626-2631
Proceedings of the National Academy of Sciences USA, 111, 2626-31
Proceedings of the National Academy of Sciences of the United States of America, 111(7), 2626-2631. National Academy of Sciences
Proc. Natl. Acad. Sci. U.S.A. 111, 2626-2631 (2014)
Proceedings of the National Academy of Sciences USA, 111, 7, pp. 2626-31

Item does not contain fulltext Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD. Using protein-protein interaction arrays, we identified BCL2-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f039110c8ce3d814891d0913e28b739c
https://doi.org/10.1073/pnas.1318306111

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Glycine receptor antibody mediated Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM): a rare but treatable neurological syndrome

Autor: Robert Howard, M M Wickremaratchi, Patrick Waters, R M Chalmers, Mark Woodhall, W M Stern, Angela Vincent

Publikováno v: Practical Neurology. 14:123-127

A 40-year-old man presented with respiratory compromise and was intubated. After tracheostomy, he was found to have ophthalmoplegia, severe limb rigidity, stimulus-sensitive myoclonus and autonomic dysfunction. For 1emsp14;week before admission, ther

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecbfa9402ce9a67a6cce9a5961d81bc7
https://doi.org/10.1136/practneurol-2013-000511

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Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

Publikováno v: Movement Disorders. 27:1522-1529

Approximately 3.6% of patients with Parkinson's disease develop symptoms before age 45. Early-onset Parkinson's disease (EOPD) patients have a higher familial recurrence risk than late-onset patients, and 3 main recessive EOPD genes have been describ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7ec060dda2f07bb0e21d26eaaef3faec
https://doi.org/10.1002/mds.25132

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The motor phenotype of Parkinson's disease in relation to age at onset

Autor: Anne Jones, Louise Ebenezer, Rachel Salmon, Christopher C Butler, Neil Robertson, Richard Weiser, M M Wickremaratchi, Yoav Ben-Shlomo, B S Dwarakanath Sastry, Debbie Davies, Maralyn Moran, Sandip Raha, M. Duleeka W Knipe, Elizabeth Morgan, Huw R. Morris

Publikováno v: Movement Disorders. 26:457-463

Background: Parkinson's disease (PD) is heterogeneous and age at onset may define variation in clinical phenotype. Most previous studies have used various age cut-offs and have been based on clinical case series. Methods: We have studied the associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f133fd1348e9dc3cbf7a03be3d494d6f
https://doi.org/10.1002/mds.23469

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Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia

Autor: Tamas Revesz, M M Wickremaratchi, Huw R. Morris, Richard Arnold, Roger Beer, Parastoo Momeni, John Hardy, Jason Bell, James Neal

Publikováno v: Clinical Neurology and Neurosurgery. 112:917-920

Autosomal dominant frontotemporal dementia (FTD) due to mutations in the MAPT gene is referred to as FTD with parkinsonism linked to chromosome 17 with tau pathology (FTDP-17T). Typically the disease begins in the sixth decade of life. We report a no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7615a6c1bf18af23a2c9a8c2a32fd83d
https://doi.org/10.1016/j.clineuro.2010.07.015

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The effect of onset age on the clinical features of Parkinson’s disease

Autor: Huw R. Morris, Yoav Ben-Shlomo, M M Wickremaratchi

Publikováno v: European Journal of Neurology. 16:450-456

Many clinicians view age at onset as an important determinant of clinical phenotype in Parkinson's disease (PD) and this has been reinforced by the identification of Mendelian genes that account for some cases of younger onset PD. A systematic review

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f892cc3a59c2a2e4ecd956ff777adf48
https://doi.org/10.1111/j.1468-1331.2008.02514.x

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Prevalence and age of onset of Parkinson's disease in Cardiff: a community based cross sectional study and meta-analysis

Autor: Yoav Ben-Shlomo, Anne Jones, Elizabeth Morgan, Peter G. Edwards, Huw R. Morris, Christopher C Butler, Neil Robertson, Dee Perera, C O'Loghlen, M M Wickremaratchi, D Sastry

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 80(7)

BACKGROUND: Previous prevalence studies of Parkinson's disease (PD) in the UK have spanned a 40 year period and have predominantly been in the North of the country. These have presented rates by current age but have not examined this by age at diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea099de0e8a489471454c551fc1859b
http://ora.ox.ac.uk/objects/uuid:cdf62e65-2f26-49cc-a924-25da1d8ad541

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Effects of ageing on touch

Autor: M M Wickremaratchi, J G Llewelyn

Publikováno v: Postgraduate medical journal. 82(967)

A decline in the main sensory modalities is well reported to occur with ageing. This article outlines the normal pathways involved in touch sensation and includes a review of available evidence relating to the study of ageing and touch. The authors t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37929d7020f08096f0bbb918c5fc6258
https://pubmed.ncbi.nlm.nih.gov/16679466

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