Zobrazeno 1 - 10
of 519
pro vyhledávání: '"Nicholas W, Wood"'
Autor:
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor sympt
Externí odkaz:
https://doaj.org/article/492a58c74a1046dba388813690ffc138
Autor:
Manuela M. X. Tan, Michael A. Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real, Alejandro Martinez Carrasco, Samir Bekadar, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, Ole A. Andreassen, Mathias Toft, Alexis Elbaz, Fanny Artaud, Alexis Brice, Jean-Christophe Corvol, Jan Aasly, Matthew J. Farrer, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, John Hardy, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Lasse Pihlstrøm, Huw R. Morris
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-15 (2024)
Abstract There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining
Externí odkaz:
https://doaj.org/article/b1dcf9f75c9e4bc4bc4699609e993749
Autor:
Ali M. Alam, Glynn W. Webb, Ceryce Collie, Sashini Mariathasan, Yun Huang, Orla Hilton, Rajish Shil, Katherine C. Dodd, James B. Lilleker, Craig J. Smith, Ava Easton, Arina Tamborska, Rhys H. Thomas, Nicholas W.S. Davies, Thomas M. Jenkins, Michael Zandi, Laura Benjamin, Mark A. Ellul, Tom Solomon, Thomas A. Pollak, Tim Nicholson, Gerome Breen, Daniel J. van Wamelen, Nicholas W. Wood, Benedict D. Michael
Publikováno v:
Clinical Medicine, Vol 24, Iss 5, Pp 100241- (2024)
Reproducible and standardised neurological assessment scales are important in quantifying research outcomes. These scales are often performed by non-neurologists and/or non-clinicians and must be robust, quantifiable, reproducible and comparable to a
Externí odkaz:
https://doaj.org/article/e4a4d9aee5a547f5a3498f3764e222b4
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Catherine S. Storm, Demis A. Kia, Mona M. Almramhi, Sara Bandres-Ciga, Chris Finan, International Parkinson’s Disease Genomics Consortium (IPDGC), Aroon D. Hingorani, Nicholas W. Wood
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
There is currently no disease-modifying treatment for Parkinson’s disease, a common neurodegenerative disorder. Here, the authors use genetic variation associated with gene and protein expression to find putative drug targets for Parkinson’s dise
Externí odkaz:
https://doaj.org/article/12208590cd7c49fd96e1688f45f4bf65
Autor:
Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A. Gagliano Taliun, Chris Turner, Stephanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou‐Fragkouli, Thomas Bourinaris, David Zhang, Tamas Revesz, Tammaryn Lashley, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Ellen Gelpi, Gabor G. Kovacs, Glenda Halliday, Dominic B. Rowe, Ian Blair, Pentti J. Tienari, Anu Suomalainen, Nick C. Fox, Nicholas W. Wood, Andrew J. Lees, Matti J. Haltia, Genomics England Research Consortium, John Hardy, Mina Ryten, Jana Vandrovcova, Henry Houlden
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1716-1725 (2020)
Abstract Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be as
Externí odkaz:
https://doaj.org/article/bd65c1e21b3a43b093ee1ae9f5b87933
Autor:
Viorica Chelban, Marianthi Breza, Maria Szaruga, Jana Vandrovcova, David Murphy, Chia‐Ju Lee, Sondos Alikhwan, Thomas Bourinaris, George Vavougios, Muhammad Ilyas, Sobia Ahsan Halim, Ahmed Al‐Harrasi, Chrisoula Kartanou, Coras Ronald, Ingmar Blumcke, Athanasia Alexoudi, Stylianos Gatzonis, Leonidas Stefanis, Georgia Karadima, Nicholas W. Wood, Lucía Chávez‐Gutiérrez, John Hardy, Henry Houlden, Georgios Koutsis
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
Abstract Introduction We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 (PSEN1) related familial Alzheimer's disease (AD). Methods We performed whole exome
Externí odkaz:
https://doaj.org/article/c428ee4e59644c059d649174fc9f7fa5
Autor:
Geoffrey Chern-Yee Tan, MBBS-PhD, MRCPsych (UK), Carlton Chu, Yu Teng Lee, Clarence Chih King Tan, John Ashburner, Nicholas W. Wood, Richard SJ. Frackowiak
Publikováno v:
NeuroImage, Vol 221, Iss , Pp 117087- (2020)
The androgen receptor (AR), oestrogen receptor alpha (ESR1) and oestrogen receptor beta (ESR2) play essential roles in mediating the effect of sex hormones on sex differences in the brain. Using Voxel-based morphometry (VBM) and gene sizing in two in
Externí odkaz:
https://doaj.org/article/9976f8349b154dc3a9bf3af78c3ddbcf
Autor:
Raffaele Ferrari, Demis A. Kia, James E. Tomkins, John Hardy, Nicholas W. Wood, Ruth C. Lovering, Patrick A. Lewis, Claudia Manzoni
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Genome wide association studies (GWAS) have helped identify large numbers of genetic loci that significantly associate with increased risk of developing diseases. However, translating genetic knowledge into understanding of the mo
Externí odkaz:
https://doaj.org/article/26642c8902a2497299c671e0e64611bb
Autor:
Marc P M Soutar, Daniela Melandri, Benjamin O’Callaghan, Emily Annuario, Amy E Monaghan, Natalie J Welsh, Karishma D’Sa, Sebastian Guelfi, David Zhang, Alan Pittman, Daniah Trabzuni, Anouk H A Verboven, Kylie S Pan, Demis A Kia, Magda Bictash, Sonia Gandhi, Henry Houlden, Mark R Cookson, Nael Nadif Kasri, Nicholas W Wood, Andrew B Singleton, John Hardy, Paul J Whiting, Cornelis Blauwendraat, Alexander J Whitworth, Claudia Manzoni, Mina Ryten, Patrick A Lewis, Hélène Plun-Favreau
Publikováno v:
Brain. 145:4349-4367
Parkinson's disease is a common incurable neurodegenerative disease. The identification of genetic variants via genome-wide association studies has considerably advanced our understanding of the Parkinson's disease genetic risk. Understanding the fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a12f2a7e7a1bd11cd4fd4af51e6ec49d
https://doi.org/10.1093/brain/awac325
https://doi.org/10.1093/brain/awac325