1,737 results on '"Warner, Thomas"'
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2. DNA methylation patterns in the frontal lobe white matter of multiple system atrophy, Parkinson’s disease, and progressive supranuclear palsy: a cross-comparative investigation
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Murthy, Megha, Fodder, Katherine, Miki, Yasuo, Rambarack, Naiomi, De Pablo Fernandez, Eduardo, Pihlstrøm, Lasse, Mill, Jonathan, Warner, Thomas T., Lashley, Tammaryn, and Bettencourt, Conceição
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- 2024
- Full Text
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3. MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study
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Warner, Thomas T, Jaunmuktane, Zane, Boeve, Bradley F, Duara, Ranjan, Graff-Radford, Neill R, Josephs, Keith A, Knopman, David S, Koga, Shunsuke, Murray, Melissa E, Lyons, Kelly E, Pahwa, Rajesh, Petersen, Ronald C, Whitwell, Jennifer L, Grinberg, Lea T, Miller, Bruce, Schlereth, Athena, Spina, Salvatore, Grossman, Murray, Irwin, David J, Suh, EunRan, Trojanowski, John Q, Van Deerlin, Vivianna M, Wolk, David A, Connors, Theresa R, Dooley, Patrick M, Oakley, Derek H, Aldecoa, Iban, Balasa, Mircea, Gelpi, Ellen, Borrego-Écija, Sergi, Gascon-Bayarri, Jordi, Sánchez-Valle, Raquel, Sanz-Cartagena, Pilar, Piñol-Ripoll, Gerard, Bigio, Eileen H, Flanagan, Margaret E, Rogalski, Emily J, Weintraub, Sandra, Schneider, Julie A, Peng, Lihua, Zhu, Xiongwei, Chang, Koping, Troncoso, Juan C, Prokop, Stefan, Newell, Kathy L, Jones, Matthew, Richardson, Anna, Roncaroli, Federico, Snowden, Julie, Allinson, Kieren, Singh, Poonam, Serrano, Geidy E, Flowers, Xena E, Goldman, James E, Heaps, Allison C, Leskinen, Sandra P, Black, Sandra E, Masellis, Mario, King, Andrew, Al-Sarraj, Safa, Troakes, Claire, Hodges, John R, Kril, Jillian J, Kwok, John B, Piguet, Olivier, Roeber, Sigrun, Attems, Johannes, Thomas, Alan J, Evers, Bret M., Bieniek, Kevin F, Sieben, Anne A, Cras, Patrick P, De Vil, Bart B, Bird, Thomas, Castellani, Rudolph J, Chaffee, Ann, Franklin, Erin, Haroutunian, Vahram, Jacobsen, Max, Keene, Dirk, Latimer, Caitlin S, Metcalf, Jeff, Perrin, Richard J, Purohit, Dushyant P, Rissman, Robert A, Schantz, Aimee, Walker, Jamie, De Deyn, Peter P, Duyckaerts, Charles, Le Ber, Isabelle, Seilhean, Danielle, Turbant-Leclere, Sabrina, Ervin, John F, Nennesmo, Inger, Riehl, James, Nacmias, Benedetta, Finger, Elizabeth C, Blauwendraat, Cornelis, Nalls, Mike A, Singleton, Andrew B, Vitale, Dan, Cunha, Cristina, Wszolek, Zbigniew K, Valentino, Rebecca R, Scotton, William J, Roemer, Shanu F, Lashley, Tammaryn, Heckman, Michael G, Shoai, Maryam, Martinez-Carrasco, Alejandro, Tamvaka, Nicole, Walton, Ronald L, Baker, Matthew C, Macpherson, Hannah L, Real, Raquel, Soto-Beasley, Alexandra I, Mok, Kin, Revesz, Tamas, Christopher, Elizabeth A, DeTure, Michael, Seeley, William W, Lee, Edward B, Frosch, Matthew P, Molina-Porcel, Laura, Gefen, Tamar, Redding-Ochoa, Javier, Ghetti, Bernardino, Robinson, Andrew C, Kobylecki, Christopher, Rowe, James B, Beach, Thomas G, Teich, Andrew F, Keith, Julia L, Bodi, Istvan, Halliday, Glenda M, Gearing, Marla, Arzberger, Thomas, Morris, Christopher M, White, Charles L, 3rd, Mechawar, Naguib, Boluda, Susana, MacKenzie, Ian R, McLean, Catriona, Cykowski, Matthew D, Wang, Shih-Hsiu J, Graff, Caroline, Nagra, Rashed M, Kovacs, Gabor G, Giaccone, Giorgio, Neumann, Manuela, Ang, Lee-Cyn, Carvalho, Agostinho, Morris, Huw R, Rademakers, Rosa, Hardy, John A, Dickson, Dennis W, Rohrer, Jonathan D, and Ross, Owen A
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- 2024
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4. The contribution of DNA methylation to the (dys)function of oligodendroglia in neurodegeneration
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Fodder, Katherine, de Silva, Rohan, Warner, Thomas T., and Bettencourt, Conceição
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- 2023
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5. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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Chia, Ruth, Sabir, Marya S, Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H, Gustavsson, Emil, Walton, Ronald L, Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B, Diez-Fairen, Monica, Portley, Makayla K, Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G, Blauwendraat, Cornelis, Stone, David J, Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, Logroscino, Giancarlo, and Serrano, Geidy E
- Subjects
Biological Sciences ,Genetics ,Human Genome ,Alzheimer's Disease Related Dementias (ADRD) ,Prevention ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Alzheimer's Disease ,Aging ,Dementia ,Brain Disorders ,Acquired Cognitive Impairment ,Lewy Body Dementia ,Biotechnology ,Parkinson's Disease ,Neurosciences ,Neurodegenerative ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Adaptor Proteins ,Signal Transducing ,Alzheimer Disease ,Case-Control Studies ,Gene Expression Profiling ,Genetic Predisposition to Disease ,Genome ,Human ,Genome-Wide Association Study ,Glucosylceramidase ,Humans ,Lewy Body Disease ,Nuclear Proteins ,Parkinson Disease ,Polymorphism ,Single Nucleotide ,Tumor Suppressor Proteins ,alpha-Synuclein ,American Genome Center ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
- Published
- 2021
6. Advancing novel therapies for neurodegeneration through an innovative model for industry–academia collaborations: A decade of the Eisai–UCL experience
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Atkinson, Peter J., Swami, Meera, Ridgway, Nicola, Roberts, Malcolm, Kinghorn, Jane, Warner, Thomas T., Staddon, James M., and Takle, Andrew K.
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- 2023
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7. Structures of α-synuclein filaments from human brains with Lewy pathology
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Yang, Yang, Shi, Yang, Schweighauser, Manuel, Zhang, Xianjun, Kotecha, Abhay, Murzin, Alexey G., Garringer, Holly J., Cullinane, Patrick W., Saito, Yuko, Foroud, Tatiana, Warner, Thomas T., Hasegawa, Kazuko, Vidal, Ruben, Murayama, Shigeo, Revesz, Tamas, Ghetti, Bernardino, Hasegawa, Masato, Lashley, Tammaryn, Scheres, Sjors H. W., and Goedert, Michel
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- 2022
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8. Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver
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Shribman, Samuel, Marjot, Thomas, Sharif, Abubakar, Vimalesvaran, Sunitha, Ala, Aftab, Alexander, Graeme, Dhawan, Anil, Dooley, James, Gillett, Godfrey T, Kelly, Deirdre, McNeill, Alisdair, Warner, Thomas T, Wheater, Valerie, Griffiths, William, and Bandmann, Oliver
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- 2022
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9. Evaluation of Cerebrospinal Fluid α‐Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome.
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Vaughan, David P., Fumi, Riona, Theilmann Jensen, Marte, Hodgson, Megan, Georgiades, Tatiana, Wu, Lesley, Lux, Danielle, Obrocki, Ruth, Lamoureux, Jennifer, Ansorge, Olaf, Allinson, Kieren S.J., Warner, Thomas T., Jaunmuktane, Zane, Misbahuddin, Anjum, Leigh, P. Nigel, Ghosh, Boyd C.P., Bhatia, Kailash P., Church, Alistair, Kobylecki, Christopher, and Hu, Michele T.M.
- Abstract
Background: Seed amplification assay (SAA) testing has been developed as a biomarker for the diagnosis of α‐synuclein‐related neurodegenerative disorders. Objective: The objective of this study was to assess the rate of α‐synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) and to analyze clinical and pathological features of SAA‐positive and ‐negative cases. Methods: A total of 96 cerebrospinal fluid samples from clinically diagnosed PSP (n = 59) and CBS (n = 37) cases were analyzed using α‐synuclein SAA. Results: Six of 59 (10.2%) PSP cases were α‐synuclein SAA positive, including one case who was MSA‐type positive. An exploratory analysis showed that PSP cases who were Parkinson's disease–type positive were older and had a shorter disease duration compared with SAA‐negative cases. In contrast, 11 of 37 (29.7%) CBS cases were α‐synuclein SAA positive, including two cases who were MSA‐type positive. Conclusions: Our results suggest that α‐synuclein seeds can be detected in PSP and CBS using a cerebrospinal fluid α‐synuclein SAA, and in PSP this may impact on clinical course. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
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McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, and Tucci, Arianna
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- 2022
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11. Development of parkinsonism after long-standing cervical dystonia – A cohort
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Balint, Bettina, Mulroy, Eoin, Gövert, Felix, Latorre, Anna, Di Lazarro, Giulia, Erro, Roberto, Batla, Amit, Holton, Janice L., Miki, Yasuo, Warner, Thomas T., and Bhatia, Kailash P.
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- 2021
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12. Abrogation of LRRK2 dependent Rab10 phosphorylation with TLR4 activation and alterations in evoked cytokine release in immune cells
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Nazish, Iqra, Arber, Charles, Piers, Thomas M., Warner, Thomas T., Hardy, John A., Lewis, Patrick A., Pocock, Jennifer M., and Bandopadhyay, Rina
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- 2021
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13. Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study
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Mok, Kin Y., Murphy, David P., Al-Sarraj, Safa, Troakes, Claire, Gentleman, Steve M., Allinson, Kieren S.J., Jaunmuktane, Zane, Holton, Janice L., Lees, Andrew J., Morris, Christopher M., Compta, Yaroslau, Gelpi, Ellen, van Swieten, John C., Rajput, Alex, Ferguson, Leslie, Cookson, Mark R., Gibbs, J. Raphael, Blauwendraat, Cornelis, Ding, Jinhui, Chia, Ruth, Traynor, Bryan J., Pantelyat, Alexander, Viollet, Coralie, Pletnikova, Olga, Troncoso, Juan C., Rosenthal, Liana S., Boxer, Adam L., Respondek, Gesine, Arzberger, Thomas, Roeber, Sigrun, Giese, Armin, Burn, David J., Pavese, Nicola, Gerhard, Alexander, Kobylecki, Christopher, Leigh, P. Nigel, Church, Alistair, T.M. Hu, Michele, Jabbari, Edwin, Koga, Shunsuke, Valentino, Rebecca R, Reynolds, Regina H, Ferrari, Raffaele, Tan, Manuela M X, Rowe, James B, Dalgard, Clifton L, Scholz, Sonja W, Dickson, Dennis W, Warner, Thomas T, Revesz, Tamas, Höglinger, Günter U, Ross, Owen A, Ryten, Mina, Hardy, John, Shoai, Maryam, and Morris, Huw R
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- 2021
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14. Rheumatoid arthritis: Methods for two murine models
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Mergaert, Aisha M., primary, Warner, Thomas F., additional, and Shelef, Miriam A., additional
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- 2022
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15. MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration
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Simone, Roberto, Javad, Faiza, Emmett, Warren, Wilkins, Oscar G., Almeida, Filipa Lourenço, Barahona-Torres, Natalia, Zareba-Paslawska, Justyna, Ehteramyan, Mazdak, Zuccotti, Paola, Modelska, Angelika, Siva, Kavitha, Virdi, Gurvir S., Mitchell, Jamie S., Harley, Jasmine, Kay, Victoria A., Hondhamuni, Geshanthi, Trabzuni, Daniah, Ryten, Mina, Wray, Selina, Preza, Elisavet, Kia, Demis A., Pittman, Alan, Ferrari, Raffaele, Manzoni, Claudia, Lees, Andrew, Hardy, John A., Denti, Michela A., Quattrone, Alessandro, Patani, Rickie, Svenningsson, Per, Warner, Thomas T., Plagnol, Vincent, Ule, Jernej, and de Silva, Rohan
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- 2021
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16. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
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Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, and Wood, Nicholas
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- 2020
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17. Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades
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Shribman, Samuel, Webb, Gwilym, Taylor, Rhiannon, Warner, Thomas T., Duckworth, Adam, Gimson, Alexander, Shenoy, Achuth, and Griffiths, William
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- 2020
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18. Club Cell TRPV4 Serves as a Damage Sensor Driving Lung Allergic Inflammation
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Wiesner, Darin L., Merkhofer, Richard M., Ober, Carole, Kujoth, Gregory C., Niu, Mengyao, Keller, Nancy P., Gern, James E., Brockman-Schneider, Rebecca A., Evans, Michael D., Jackson, Daniel J., Warner, Thomas, Jarjour, Nizar N., Esnault, Stephane J., Feldman, Michael B., Freeman, Matthew, Mou, Hongmei, Vyas, Jatin M., and Klein, Bruce S.
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- 2020
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19. MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study
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Valentino, Rebecca R, primary, Scotton, William J, additional, Roemer, Shanu F, additional, Lashley, Tammaryn, additional, Heckman, Michael G, additional, Shoai, Maryam, additional, Martinez-Carrasco, Alejandro, additional, Tamvaka, Nicole, additional, Walton, Ronald L, additional, Baker, Matthew C, additional, Macpherson, Hannah L, additional, Real, Raquel, additional, Soto-Beasley, Alexandra I, additional, Mok, Kin, additional, Revesz, Tamas, additional, Christopher, Elizabeth A, additional, DeTure, Michael, additional, Seeley, William W, additional, Lee, Edward B, additional, Frosch, Matthew P, additional, Molina-Porcel, Laura, additional, Gefen, Tamar, additional, Redding-Ochoa, Javier, additional, Ghetti, Bernardino, additional, Robinson, Andrew C, additional, Kobylecki, Christopher, additional, Rowe, James B, additional, Beach, Thomas G, additional, Teich, Andrew F, additional, Keith, Julia L, additional, Bodi, Istvan, additional, Halliday, Glenda M, additional, Gearing, Marla, additional, Arzberger, Thomas, additional, Morris, Christopher M, additional, White, Charles L, additional, Mechawar, Naguib, additional, Boluda, Susana, additional, MacKenzie, Ian R, additional, McLean, Catriona, additional, Cykowski, Matthew D, additional, Wang, Shih-Hsiu J, additional, Graff, Caroline, additional, Nagra, Rashed M, additional, Kovacs, Gabor G, additional, Giaccone, Giorgio, additional, Neumann, Manuela, additional, Ang, Lee-Cyn, additional, Carvalho, Agostinho, additional, Morris, Huw R, additional, Rademakers, Rosa, additional, Hardy, John A, additional, Dickson, Dennis W, additional, Rohrer, Jonathan D, additional, Ross, Owen A, additional, Warner, Thomas T, additional, Jaunmuktane, Zane, additional, Boeve, Bradley F, additional, Duara, Ranjan, additional, Graff-Radford, Neill R, additional, Josephs, Keith A, additional, Knopman, David S, additional, Koga, Shunsuke, additional, Murray, Melissa E, additional, Lyons, Kelly E, additional, Pahwa, Rajesh, additional, Petersen, Ronald C, additional, Whitwell, Jennifer L, additional, Grinberg, Lea T, additional, Miller, Bruce, additional, Schlereth, Athena, additional, Spina, Salvatore, additional, Grossman, Murray, additional, Irwin, David J, additional, Suh, EunRan, additional, Trojanowski, John Q, additional, Van Deerlin, Vivianna M, additional, Wolk, David A, additional, Connors, Theresa R, additional, Dooley, Patrick M, additional, Oakley, Derek H, additional, Aldecoa, Iban, additional, Balasa, Mircea, additional, Gelpi, Ellen, additional, Borrego-Écija, Sergi, additional, Gascon-Bayarri, Jordi, additional, Sánchez-Valle, Raquel, additional, Sanz-Cartagena, Pilar, additional, Piñol-Ripoll, Gerard, additional, Bigio, Eileen H, additional, Flanagan, Margaret E, additional, Rogalski, Emily J, additional, Weintraub, Sandra, additional, Schneider, Julie A, additional, Peng, Lihua, additional, Zhu, Xiongwei, additional, Chang, Koping, additional, Troncoso, Juan C, additional, Prokop, Stefan, additional, Newell, Kathy L, additional, Jones, Matthew, additional, Richardson, Anna, additional, Roncaroli, Federico, additional, Snowden, Julie, additional, Allinson, Kieren, additional, Singh, Poonam, additional, Serrano, Geidy E, additional, Flowers, Xena E, additional, Goldman, James E, additional, Heaps, Allison C, additional, Leskinen, Sandra P, additional, Black, Sandra E, additional, Masellis, Mario, additional, King, Andrew, additional, Al-Sarraj, Safa, additional, Troakes, Claire, additional, Hodges, John R, additional, Kril, Jillian J, additional, Kwok, John B, additional, Piguet, Olivier, additional, Roeber, Sigrun, additional, Attems, Johannes, additional, Thomas, Alan J, additional, Evers, Bret M., additional, Bieniek, Kevin F, additional, Sieben, Anne A, additional, Cras, Patrick P, additional, De Vil, Bart B, additional, Bird, Thomas, additional, Castellani, Rudolph J, additional, Chaffee, Ann, additional, Franklin, Erin, additional, Haroutunian, Vahram, additional, Jacobsen, Max, additional, Keene, Dirk, additional, Latimer, Caitlin S, additional, Metcalf, Jeff, additional, Perrin, Richard J, additional, Purohit, Dushyant P, additional, Rissman, Robert A, additional, Schantz, Aimee, additional, Walker, Jamie, additional, De Deyn, Peter P, additional, Duyckaerts, Charles, additional, Le Ber, Isabelle, additional, Seilhean, Danielle, additional, Turbant-Leclere, Sabrina, additional, Ervin, John F, additional, Nennesmo, Inger, additional, Riehl, James, additional, Nacmias, Benedetta, additional, Finger, Elizabeth C, additional, Blauwendraat, Cornelis, additional, Nalls, Mike A, additional, Singleton, Andrew B, additional, Vitale, Dan, additional, Cunha, Cristina, additional, and Wszolek, Zbigniew K, additional
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- 2024
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20. Movement Disorders
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Foltynie, Thomas, primary, Bhatia, Kailash, additional, Cordivari, Carla, additional, Joyce, Eileen, additional, Korlipara, Prasad, additional, Limousin, Patricia, additional, Saifee, Tabish, additional, Tabrizi, Sarah, additional, and Warner, Thomas, additional
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- 2024
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21. Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates
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Ling, Helen, Gelpi, Ellen, Davey, Karen, Jaunmuktane, Zane, Mok, Kin Y., Jabbari, Edwin, Simone, Roberto, R’Bibo, Lea, Brandner, Sebastian, Ellis, Matthew J., Attems, Johannes, Mann, David, Halliday, Glenda M., Al-Sarraj, S., Hedreen, J., Ironside, James W., Kovacs, Gabor G., Kovari, E., Love, S., Vonsattel, Jean Paul G., Allinson, Kieren S. J., Hansen, Daniela, Bradshaw, Teisha, Setó-Salvia, Núria, Wray, Selina, de Silva, Rohan, Morris, Huw R., Warner, Thomas T., Hardy, John, Holton, Janice L., and Revesz, Tamas
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- 2020
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22. Early presentation of urinary retention in multiple system atrophy: can the disease begin in the sacral spinal cord?
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Panicker, Jalesh N., Simeoni, Sara, Miki, Yasuo, Batla, Amit, Iodice, Valeria, Holton, Janice L., Sakakibara, Ryuji, and Warner, Thomas T.
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- 2020
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23. Assembly of α-synuclein and neurodegeneration in the central nervous system of heterozygous M83 mice following the peripheral administration of α-synuclein seeds
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Macdonald, Jennifer A., Chen, John L., Masuda-Suzukake, Masami, Schweighauser, Manuel, Jaunmuktane, Zane, Warner, Thomas, Holton, Janice L., Grossman, Annabelle, Berks, Richard, Lavenir, Isabelle, and Goedert, Michel
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- 2021
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24. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
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Shribman, Samuel, Reid, Evan, Crosby, Andrew H, Houlden, Henry, and Warner, Thomas T
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- 2019
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25. Colonic transit, high-resolution anorectal manometry and MRI defecography study of constipation in Parkinson's disease
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De Pablo-Fernández, Eduardo, Passananti, Valentina, Zárate-López, Natalia, Emmanuel, Anton, and Warner, Thomas
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- 2019
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26. Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages
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Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza (Keylock), Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O’Keefe, Deidre, Gerrtiz (nee Di Pietro), Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Callaghan, Jenny, Dunnett, Stephen, Clenaghan, Catherine, Fullam, Ruth, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Harrower, Timothy, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Harrison, Kaye, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Rowett, Liz, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, McEntagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Gosling (nee Brown), Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen (formerly Ritchie), Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, McDonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Lois, Singh, Baldev, Wood, Josh, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Burn, John, Weekes, Rebecca, Craven, Janet, Bailey, Wendy, Coleman, Caroline, Haig-Brown, Diane, Simpson, Steve, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Ho, Aileen, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O’Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, MacKinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Bucher, Walter, de Schepper, Beatrice, Eden, John, Hendrikx, Victor, Hughes, Alis, King, Diana, Kleibrink, Ursula, Kuttruff-Wilschut, Rita, Lenon-Bird, Anne, Lohkamp, Christiane, Perrousseaux, Marie-Odile, Martinez, Asuncion, Rapaille, Lilliane, Santini, Helen, Sasinkova, Pavla, Soltysiak, Beverley, Smith, Steve, van der Leer, Hans, van der Meer, Lucienne, Wooldridge, Michael, Zinzi, Paola, Ho, Aileen K., Horton, Mike C., Landwehrmeyer, G. Bernhard, Burgunder, Jean-Marc, and Tennant, Alan
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- 2019
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27. Intranasal administration of trehalose reduces α-synuclein oligomers and accelerates α-synuclein aggregation.
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Tanaka, Makoto T, Miki, Yasuo, Mori, Fumiaki, Kon, Tomoya, Furukawa, Tomonori, Shimoyama, Shuji, Tatara, Yota, Ozaki, Taku, Bettencourt, Conceição, Warner, Thomas T, and Wakabayashi, Koichi
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- 2024
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28. Neuropathologic Validation and Diagnostic Accuracy of Presynaptic Dopaminergic Imaging in the Diagnosis of Parkinsonism.
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Hastings, Alexandra, Cullinane, Patrick, Wrigley, Sarah, Revesz, Tamas, Morris, Huw R., Dickson, John C., Jaunmuktane, Zane, Warner, Thomas T., and De Pablo-Fernández, Eduardo
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- 2024
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29. Pathology of neurodegenerative disease for the general neurologist.
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Cullinane, Patrick W., Wrigley, Sarah, Bezerra Parmera, Jacy, Valerio, Fernanda, Millner, Thomas O., Shaw, Karen, De Pablo-Fernandez, Eduardo, Warner, Thomas T., and Jaunmuktane, Zane
- Subjects
SPINAL cord physiology ,NEURAL physiology ,PROGRESSIVE supranuclear palsy ,NEUROLOGISTS ,ALZHEIMER'S disease ,GLIOMAS ,NEURODEGENERATION ,PARKINSON'S disease ,MULTIPLE system atrophy ,CHRONIC traumatic encephalopathy ,BIOMARKERS - Abstract
Neurodegeneration refers to progressive dysfunction or loss of selectively vulnerable neurones from brain and spinal cord regions. Despite important advances in fluid and imaging biomarkers, the definitive diagnosis of most neurodegenerative diseases still relies on neuropathological examination. Not only has careful clinicopathological correlation shaped current clinical diagnostic criteria and informed our understanding of the natural history of neurodegenerative diseases, but it has also identified conditions with important public health implications, including variant Creutzfeldt-Jakob disease, iatrogenic amyloid-β and chronic traumatic encephalopathy. Neuropathological examination may also point to previously unsuspected genetic diagnoses with potential implications for living relatives. Moreover, detailed neuropathological assessment is crucial for research studies that rely on curated postmortem tissue to investigate the molecular mechanisms responsible for neurodegeneration and for biomarker discovery and validation. This review aims to elucidate the hallmark pathological features of neurodegenerative diseases commonly seen in general neurology clinics, such as Alzheimer's disease and Parkinson's disease; rare but well- known diseases, including progressive supranuclear palsy, corticobasal degeneration and multiple system atrophy and more recently described entities such as chronic traumatic encephalopathy and age- related tau astrogliopathy. [ABSTRACT FROM AUTHOR]
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- 2024
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30. Hypothalamic α-synuclein and its relation to autonomic symptoms and neuroendocrine abnormalities in Parkinson disease
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De Pablo-Fernández, Eduardo, primary and Warner, Thomas T., additional
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- 2021
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31. Differential LRRK2 Signalling and Gene Expression in WT-LRRK2 and G2019S-LRRK2 Mouse Microglia Treated with Zymosan and MLi2
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Nazish, Iqra, primary, Mamais, Adamantios, additional, Mallach, Anna, additional, Bettencourt, Conceicao, additional, Kaganovich, Alice, additional, Warner, Thomas, additional, Hardy, John, additional, Lewis, Patrick A., additional, Pocock, Jennifer, additional, Cookson, Mark R., additional, and Bandopadhyay, Rina, additional
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- 2023
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32. Analysis of macroautophagy related proteins in G2019S LRRK2 Parkinson’s disease brains with Lewy body pathology
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Mamais, Adamantios, Manzoni, Claudia, Nazish, Iqra, Arber, Charles, Sonustun, Berkiye, Wray, Selina, Warner, Thomas T., Cookson, Mark R., Lewis, Patrick A., and Bandopadhyay, Rina
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- 2018
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33. Lung Epithelial Cells Coordinate Innate Lymphocytes and Immunity against Pulmonary Fungal Infection
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Hernández-Santos, Nydiaris, Wiesner, Darin L., Fites, J. Scott, McDermott, Andrew J., Warner, Thomas, Wüthrich, Marcel, and Klein, Bruce S.
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- 2018
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34. White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy
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Bettencourt, Conceição, Foti, Sandrine C., Miki, Yasuo, Botia, Juan, Chatterjee, Aparajita, Warner, Thomas T., Revesz, Tamas, Lashley, Tammaryn, Balazs, Robert, Viré, Emmanuelle, and Holton, Janice L.
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- 2020
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35. Exenatide once weekly versus placebo in Parkinson's disease: a randomised, double-blind, placebo-controlled trial
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Athauda, Dilan, Maclagan, Kate, Skene, Simon S, Bajwa-Joseph, Martha, Letchford, Dawn, Chowdhury, Kashfia, Hibbert, Steve, Budnik, Natalia, Zampedri, Luca, Dickson, John, Li, Yazhou, Aviles-Olmos, Iciar, Warner, Thomas T, Limousin, Patricia, Lees, Andrew J, Greig, Nigel H, Tebbs, Susan, and Foltynie, Thomas
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- 2017
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36. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
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Coleman, A, Santos, R Dar, Decolongon, J, Sturrock, A, Bardinet, E, Ret, C Jauff, Justo, D, Lehericy, S, Marelli, C, Nigaud, K, Valabrègue, R, van den Bogaard, SJA, Dumas, E M, van der Grond, J, t'Hart, EP, Jurgens, C, Witjes-Ane, M-N, Arran, N, Callaghan, J, Stopford, C, Frost, C, Jones, R, Hobbs, N, Lahiri, N, Ordidge, R, Owen, G, Pepple, T, Read, J, Say, M, Wild, E, Patel, A, Fox, N C, Gibbard, C, Malone, I, Crawford, H, Whitehead, D, Keenan, S, Cash, D M, Berna, C, Bechtel, N, Bohlen, S, Man, A Hoff, Kraus, P, Axelson, E, Wang, C, Acharya, T, Lee, S, Monaco, W, Campbell, C, Queller, S, Whitlock, K, Campbell, M, Frajman, E, Milchman, C, O'Regan, A, Labuschagne, I, Stout, J, Landwehrmeyer, B, Craufurd, D, Scahill, R, Hicks, S, Kennard, C, Johnson, H, Tobin, A, Rosas, HD, Reilmann, R, Borowsky, B, Pourchot, C, Andrews, S C, Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jørgen, Koivisto, Susana Pro, Päivärinta, Markku, Roos, Raymund A.C., Sebastián, A Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica Bascuñana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hélène, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Røren, Niini, Šašinková, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Müller, Christoph, Poewe, Werner, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cécile, van Paemel, Dominique, Ribaï, Pascale, van Reijen, Dimphna, Klempír, Jirí, Majerová, Veronika, Roth, Jan, Stárková, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, Jørgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Barthélémy, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Béatrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Mundler, Laura, Anheim, Mathieu, Julié, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Löhle, Matthias, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Schmalfeld, Jenny, Stubbe, Lars, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bürk, Katrin, Möller, Jens Carsten, Rissling, Ida, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthias, Leythäuser, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süßmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S.E., Verhoeven, Marloes E., van Vugt, Jeroen P.P., de Weert, A. Marit, Bolwijn, J.J.W., Dekker, M., Kremer, B., Leenders, K.L., van Oostrom, J.C.H., van den Bogaard, Simon J.A., Dumas, Eve M., 't Hart, Ellen P., Kremer, Berry, Verstappen, C.C.P., Aaserud, Olaf, C, Jan Frich, Wehus, Ragnhild, Bjørgo, Kathrine, Fannemel, Madeleine, Gørvell, Per F., Lorentzen, Eirin, Retterstøl, Lars, Stokke, Bodil, Bjørnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wójcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlos, Gago, Miguel, Garrett, Carolina, Guerra, Maria Rosália, Herrera, Carmen Durán, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badenes, Hernanz, Laura Casas, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Blas, Fenollar, María, García, Rocío García-Ramos, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuñana, Mónica, Caldentey, Juan Garcia, Ventura, Marta Fatás, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Frech, Fernando Alonso, Ruíz, Pedro J García, Martínez-Descals, Asunción, Guerrero, Rosa, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, María Martirio Antequera, Moreau, Laura Vivancos, González González, Sonia, Guisasola, Luis Menéndez, Salvador, Carlos, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Arques, Penelope Navas, Rodríguez, María José Torres, Pastor, Barbara Vives, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolores, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peña, José Chacón, Redondo, Luis, Carrillo, Fátima, Teresa Cáceres, María, Mir, Pablo, Suarez, María José Lama, Vargas-González, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andres, Campos, Anabel, Vilaplana, Garcia Carmen Peiró, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wentzel, Magnus, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jens, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Ho, Carrie, Hughes, Teresa, McGill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klöppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, Harrison, David, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Moss, Davina J Hensman, Pardiñas, Antonio F, Langbehn, Douglas, Lo, Kitty, Leavitt, Blair R, Roos, Raymund, Durr, Alexandra, Mead, Simon, Holmans, Peter, and Tabrizi, Sarah J
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- 2017
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37. Peptidylarginine deiminase 2 is required for tumor necrosis factor alpha-induced citrullination and arthritis, but not neutrophil extracellular trap formation
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Bawadekar, Mandar, Shim, Daeun, Johnson, Chad J., Warner, Thomas F., Rebernick, Ryan, Damgaard, Dres, Nielsen, Claus H., Pruijn, Ger J.M., Nett, Jeniel E., and Shelef, Miriam A.
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- 2017
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38. Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis
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Bettencourt, Conceição, Piras, Ignazio S., Foti, Sandrine C., Talboom, Joshua, Miki, Yasuo, Lashley, Tammaryn, Balazs, Robert, Viré, Emmanuelle, Warner, Thomas T., Huentelman, Matt J., and Holton, Janice L.
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- 2020
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39. Progression of atypical parkinsonian syndromes:PROSPECT-M-UK study implications for clinical trials
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Street, Duncan, Jabbari, Edwin, Costantini, Alyssa, Jones, P Simon, Holland, Negin, Rittman, Timothy, Jensen, Marte T, Chelban, Viorica, Goh, Yen Y, Guo, Tong, Heslegrave, Amanda J, Roncaroli, Federico, Klein, Johannes C, Ansorge, Olaf, Allinson, Kieren SJ, Jaunmuktane, Zane, Revesz, Tamas, Warner, Thomas T, Lees, Andrew J, Zetterberg, Henrik, Russell, Lucy L, Bocchetta, Martina, Rohrer, Jonathan D, Burn, David J, Pavese, Nicola, Gerhard, Alexander, Kobylecki, Christopher, Leigh, P Nigel, Church, Alistair, Hu, Michele TM, Houlden, Henry, Morris, Huw, Rowe, James B, Street, Duncan [0000-0003-2168-2242], Jabbari, Edwin [0000-0001-6844-882X], Rittman, Timothy [0000-0003-1063-6937], Chelban, Viorica [0000-0002-7797-0756], Warner, Thomas T [0000-0001-6195-6995], Lees, Andrew J [0000-0002-2476-4385], Bocchetta, Martina [0000-0003-1814-5024], Gerhard, Alexander [0000-0002-8071-6062], Houlden, Henry [0000-0002-2866-7777], Morris, Huw [0000-0002-5473-3774], and Apollo - University of Cambridge Repository
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clinical trials ,multiple system atrophy ,progressive supranuclear palsy ,corticobasal syndrome ,Neurology (clinical) ,sample size - Abstract
Supplementary data is available online at https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awad105/7091433#supplementary-data . Accepted manuscripts are PDF versions of the author’s final manuscript, as accepted for publication by the journal but prior to copyediting or typesetting. They can be cited using the author(s), article title, journal title, year of online publication, and DOI. They will be replaced by the final typeset articles, which may therefore contain changes. The DOI will remain the same throughout. Copyright © The Author(s) 2023. The advent of clinical trials of disease-modifying agents for neurodegenerative disease highlights the need for evidence-based end point selection. Here we report the longitudinal PROSPECT-M-UK study of progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), multiple system atrophy (MSA) and related disorders, to compare candidate clinical trial end points. In this multicentre UK study, participants were assessed with serial questionnaires, motor examination, neuropsychiatric and MRI assessments at baseline, 6 and 12 months. Participants were classified by diagnosis at baseline and study end, into Richardson syndrome, PSP-subcortical (PSP-parkinsonism and progressive gait freezing subtypes), PSP-cortical (PSP-frontal, PSP-speech and language and PSP-CBS subtypes), MSA-parkinsonism, MSA-cerebellar, CBS with and without evidence of Alzheimer’s disease pathology and indeterminate syndromes. We calculated annual rate of change, with linear mixed modelling and sample sizes for clinical trials of disease-modifying agents, according to group and assessment type. Two hundred forty-three people were recruited [117 PSP, 68 CBS, 42 MSA and 16 indeterminate; 138 (56.8%) male; age at recruitment 68.7 ± 8.61 years]. One hundred and fifty-nine completed the 6-month assessment (82 PSP, 27 CBS, 40 MSA and 10 indeterminate) and 153 completed the 12-month assessment (80 PSP, 29 CBS, 35 MSA and nine indeterminate). Questionnaire, motor examination, neuropsychiatric and neuroimaging measures declined in all groups, with differences in longitudinal change between groups. Neuroimaging metrics would enable lower sample sizes to achieve equivalent power for clinical trials than cognitive and functional measures, often achieving N < 100 required for 1-year two-arm trials (with 80% power to detect 50% slowing). However, optimal outcome measures were disease-specific. In conclusion, phenotypic variance within PSP, CBS and MSA is a major challenge to clinical trial design. Our findings provide an evidence base for selection of clinical trial end points, from potential functional, cognitive, clinical or neuroimaging measures of disease progression. The Progressive Supranuclear Palsy–Corticobasal Syndrome–Multiple System Atrophy (PROSPECT-M-UK) study is supported by grants for PROSPECT, cerebrospinal fluid biomarker measurements, and PROSPECT magnetic resonance imaging and Sara Koe Fellowship grants from the PSP Association UK, CBD Solutions, the MSA Trust, the Wellcome Trust (103838; 220258); the NIHR Cambridge Biomedical Research Centre and Cambridge Brain Bank (BRC 1215-20014; NIHR203312: The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care); Cambridge Centre for Parkinson-Plus; Medical Research Council (SUAG/092 116768); and the NIHR UCLH Biomedical Research Centre. Queen Square Brain Bank is supported by the Reta Lila Weston Institute for Neurological Studies and the MRC. The fluid biomarker measurements were supported in part by the UK Dementia Research Institute at UCL and a multiuser equipment grant from Wellcome Trust. The Cambridge Brain Bank is part of the Cambridge Human research Tissue Bank funded by the Biomedical Research Council. The Oxford Brain Bank is supported by the MRC, Brains for Dementia Research (Alzheimer’s Society and Alzheimer’s Research UK), and the NIHR Oxford Biomedical Research Centre. In addition, this study was supported by the Medical Research Council (MRC 548211) (Dr Jabbari); the Association of British Neurologists Clinical Research Training Fellowships (Dr Holland, Dr Goh and Dr Chelban); the MSA Trust (Dr Chelban, Dr Goh); Guarantors of Brain (Dr Chelban); CBD Solutions (Dr Revesz, and Dr Morris); the NIHR Oxford Health Clinical Research Facility (Dr Klein); the NIHR Queen Square Biomedical Research Centre based at UCLH (Dr Revesz and Dr Jaunmuktane) a Wallenberg Academy fellowship (Dr Zetterberg); the Monument Trust Discovery Award from Parkinson’s UK (Dr Hu). Dr Bocchetta is supported by a Fellowship award from the Alzheimer’s Society, UK (AS-JF-19a-004-517). Dr Bocchetta’s work was also supported by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer’s Society and Alzheimer’s Research UK. Professor Rohrer is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). Professor Zetterberg is a Wallenberg Scholar supported by grants from the Swedish Research Council (#2018-02532), the European Research Council (#681712), Swedish State Support for Clinical Research (#ALFGBG-720931), the Alzheimer Drug Discovery Foundation (ADDF), USA (#201809-2016862), the AD Strategic Fund and the Alzheimer's Association (#ADSF-21-831376-C, #ADSF-21-831381-C and #ADSF-21-831377-C), the Olav Thon Foundation, the Erling-Persson Family Foundation, Stiftelsen för Gamla Tjänarinnor, Hjärnfonden, Sweden (#FO2019-0228), the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No 860197 (MIRIADE), European Union Joint Program for Neurodegenerative Disorders (JPND2021-00694), and the UK Dementia Research Institute at UCL. Professor Roncaroli’s work is supported by The Manchester Brain Bank, which is part of BDR, jointly funded by Alzheimer’s Society and Alzheimer’s Research UK. For the purpose of open access, the authors have applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission, under a Creative Commons Attribution 4.0 International License.
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- 2023
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40. Late Presentation of Chronic Traumatic Encephalopathy in a Former Association Football Player
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Cullinane, Patrick W., primary, Wrigley, Sarah, additional, Bradshaw, Teisha Y., additional, Shaw, Karen, additional, Shribman, Samuel, additional, de Pablo Fernandez, Eduardo, additional, Warner, Thomas T., additional, and Jaunmuktane, Zane, additional
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- 2023
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41. Chapter 14 - Stiff person syndrome
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Cullinane, Patrick W., Carr, Aisling S., Irani, Sarosh R., and Warner, Thomas T.
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- 2024
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42. A molecular genetic study of inherited movement disorders
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Warner, Thomas Treharne
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572.8 ,Neurological disease genes - Abstract
The introduction of recombinant DNA technology has led to the isolation of a number of neurological disease genes. This study describes the application of positional cloning techniques to three dominantly inherited movement disorders: Idiopathic Torsion Dystonia (ITD), Hereditary Essential Tremor (HET) and Dentatorubropallidoluysian atrophy DRPLA). A gene for ITD (DYT1) has been mapped to chromosome 9q34 in the United States. This study describes linkage analysis of 26 British families with ITD using markers from this region. Linkage was confirmed in a proportion of these kindreds. A multipoint linkage map was constructed which suggested that the DYT1 gene mapped to the interval between markers D9S63 and D9S64. Significant genetic heterogeneity was also demonstrated in this study, both for families with generalised ITD and also kindreds with focal ITD. For one large ITD kindred shown to be unlinked to markers on chromosome 9q34, a linkage study with one hundred microsatellite markers from throughout the genome was performed and a significant proportion of genome excluded from carrying the disease locus. An allelic association study confirmed the linkage disequilibrium between a particular haplotype of 9q34 markers in Ashkenazi Jewish families which had previously been reported in the United States. This points to a founder mutation occurring in this population before the migration of the Ashkenazim to Western Europe and the USA. A similar study, looking at index cases with non Jewish generalised ITD was unable to demonstrate any association. Analysis of a number of candidate genes mapping to chromosome 9q34 is described. A systematic linkage study on kindreds with HET is also described. 130 microsatellite markers were analysed in six HET pedigrees and lod scores presented. One potential area of linkage on chromosome 1q was studied with further markers and families, and a search for candidate genes mapping to this and other regions performed. DRPLA is a neurodegenerative disorder with characteristic pathology caused by an unstable trinucleotide repeat within the atrophin gene on chromosome 12p. This study describes the first identified European families with DRPLA. All kindreds with DPRLA have CAG expansions of 58 to 74 repeats, compared with 7 to 26 in control chromosomes. The size of the repeat was significantly inversely correlated with the age of onset. The role of unstable trinucleotide repeats in neurological disease is discussed in detail.
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- 1997
43. Copy number variation of LINGO1 in familial dystonic tremor
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Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Lango Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T., and Crosby, Andrew H.
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- 2019
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44. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia
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Mencacci, Niccolo E., Brockmann, Marisa M., Dai, Jinye, Pajusalu, Sander, Atasu, Burcu, Campos, Joaquin, Pino, Gabriela, Gonzalez-Latapi, Paulina, Patzke, Christopher, Schwake, Michael, Tucci, Arianna, Pittman, Alan, Simon-Sanchez, Javier, Carvill, Gemma L., Wiethoff, Bettina Balin Sarah, Warner, Thomas T., Papandreou, Apostolos, Soo, Audrey, Rein, Reet, Kadastik-Eerme, Liis, Puusepp, Sanna, Reinson, Karit, Tomberg, Tiiu, Hanagasi, Hasmet, Gasser, Thomas, Bhatia, Kailash P., Kurian, Manju A., Lohmann, Ebba, Ounap, Katrin, Rosenmund, Christian, Sudhof, Thomas C., Wood, Nicholas W., Krainc, Dimitri, and Acuna, Claudio
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Care and treatment ,Development and progression ,Genetic aspects ,Health aspects ,Synaptic transmission -- Genetic aspects -- Health aspects ,Dystonia -- Genetic aspects -- Development and progression -- Care and treatment ,Genetic variation -- Health aspects ,Binding proteins -- Health aspects ,Neural transmission -- Genetic aspects -- Health aspects - Abstract
Introduction Dystonia is a disabling hyperkinetic movement disorder characterized by an excess of sustained, often repetitive, involuntary twisting movements, and abnormal postures (1). Dystonia, after Parkinson's disease and essential tremor, [...], Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy. Conversely, subjects carrying a pathogenic missense variant (p.Gly1808Ser) presented with isolated adult-onset focal dystonia. In mice, complete loss of RIMBP1, known to reduce neurotransmission, led to motor abnormalities reminiscent of dystonia, decreased Purkinje cell dendritic arborization, and reduced numbers of cerebellar synapses. In vitro analysis of the p.Gly1808Ser variant showed larger spike-evoked calcium transients and enhanced neurotransmission, suggesting that RIMBP1-linked dystonia can be caused by either reduced or enhanced rates of spike-evoked release in relevant neural networks. Our findings establish a direct link between dysfunction of the presynaptic active zone and dystonia and highlight the critical role played by well-balanced neurotransmission in motor control and disease pathogenesis.
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- 2021
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45. Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing
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Perez-Rodriguez, Diego, Kalyva, Maria, Leija-Salazar, Melissa, Lashley, Tammaryn, Tarabichi, Maxime, Chelban, Viorica, Gentleman, Steve, Schottlaender, Lucia, Franklin, Hannah, Vasmatzis, George, Houlden, Henry, Schapira, Anthony H. V., Warner, Thomas T., Holton, Janice L., Jaunmuktane, Zane, and Proukakis, Christos
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- 2019
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46. Differential LRRK2 Signalling and Gene Expression in WT-LRRK2 and G2019S-LRRK2 Mouse Microglia Treated with Zymosan and MLi2.
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Nazish, Iqra, Mamais, Adamantios, Mallach, Anna, Bettencourt, Conceicao, Kaganovich, Alice, Warner, Thomas, Hardy, John, Lewis, Patrick A., Pocock, Jennifer, Cookson, Mark R., and Bandopadhyay, Rina
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DARDARIN ,GENE expression ,ZYMOSAN ,RECESSIVE genes ,MICROGLIA ,GENE expression profiling ,PROGRAMMED cell death 1 receptors - Abstract
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause autosomal dominant Parkinson's disease (PD), with the most common causative mutation being the LRRK2 p.G2019S within the kinase domain. LRRK2 protein is highly expressed in the human brain and also in the periphery, and high expression of dominant PD genes in immune cells suggests involvement of microglia and macrophages in inflammation related to PD. LRRK2 is known to respond to extracellular signalling including TLR4, resulting in alterations in gene expression, with the response to TLR2 signalling through zymosan being less known. Here, we investigated the effects of zymosan, a TLR2 agonist and the potent and specific LRRK2 kinase inhibitor MLi-2 on gene expression in microglia from LRRK2-WT and LRRK2 p.G2019S knock-in mice by RNA-sequencing analysis. We observed both overlapping and distinct zymosan and MLi-2 mediated gene expression profiles in microglia. At least two candidate genome-wide association (GWAS) hits for PD, CathepsinB (Ctsb) and Glycoprotein-nmb (Gpnmb), were notably downregulated by zymosan treatment. Genes involved in inflammatory response and nervous system development were up and downregulated, respectively, with zymosan treatment, while MLi-2 treatment particularly exhibited upregulated genes for ion transmembrane transport regulation. Furthermore, we observed that the top twenty most significantly differentially expressed genes in LRRK2 p.G2019S microglia show enriched biological processes in iron transport and response to oxidative stress. Overall, these results suggest that microglial LRRK2 may contribute to PD pathogenesis through altered inflammatory pathways. Our findings should encourage future investigations of these putative avenues in the context of PD pathogenesis. [ABSTRACT FROM AUTHOR]
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- 2024
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47. Cardiovascular outcomes of cancer patients in rural Australia
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Williams, Trent D., primary, Kaur, Amandeep, additional, Warner, Thomas, additional, Aslam, Maria, additional, Clark, Vanessa, additional, Walker, Rhonda, additional, Ngo, Doan T. M., additional, and Sverdlov, Aaron L., additional
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- 2023
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48. Creating the Pick’s disease International Consortium: Association study ofMAPTH2 haplotype with risk of Pick’s disease
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Valentino, Rebecca R, primary, Scotton, William J, additional, Roemer, Shanu F, additional, Lashley, Tammaryn, additional, Heckman, Michael G, additional, Shoai, Maryam, additional, Martinez-Carrasco, Alejandro, additional, Tamvaka, Nicole, additional, Walton, Ronald L, additional, Baker, Matthew C, additional, Macpherson, Hannah L, additional, Real, Raquel, additional, Soto-Beasley, Alexandra I, additional, Mok, Kin, additional, Revesz, Tamas, additional, Warner, Thomas T, additional, Jaunmuktane, Zane, additional, Boeve, Bradley F, additional, Christopher, Elizabeth A, additional, DeTure, Michael, additional, Duara, Ranjan, additional, Graff-Radford, Neill R, additional, Josephs, Keith A, additional, Knopman, David S, additional, Koga, Shunsuke, additional, Murray, Melissa E, additional, Lyons, Kelly E, additional, Pahwa, Rajesh, additional, Parisi, Joseph E, additional, Petersen, Ronald C, additional, Whitwell, Jennifer, additional, Grinberg, Lea T, additional, Miller, Bruce, additional, Schlereth, Athena, additional, Seeley, William W, additional, Spina, Salvatore, additional, Grossman, Murray, additional, Irwin, David J, additional, Lee, Edward B, additional, Suh, EunRan, additional, Trojanowski, John Q, additional, Van Deerlin, Vivianna M, additional, Wolk, David A, additional, Connors, Theresa R, additional, Dooley, Patrick M, additional, Frosch, Matthew P, additional, Oakley, Derek H, additional, Aldecoa, Iban, additional, Balasa, Mircea, additional, Gelpi, Ellen, additional, Borrego-Écija, Sergi, additional, de Eugenio Huélamo, Rosa Maria, additional, Gascon-Bayarri, Jordi, additional, Sánchez-Valle, Raquel, additional, Sanz-Cartagena, Pilar, additional, Piñol-Ripoll, Gerard, additional, Molina-Porcel, Laura, additional, Bigio, Eileen H, additional, Flanagan, Margaret E, additional, Gefen, Tamar, additional, Rogalski, Emily J, additional, Weintraub, Sandra, additional, Redding-Ochoa, Javier, additional, Chang, Koping, additional, Troncoso, Juan C, additional, Prokop, Stefan, additional, Newell, Kathy L, additional, Ghetti, Bernardino, additional, Jones, Matthew, additional, Richardson, Anna, additional, Robinson, Andrew C, additional, Roncaroli, Federico, additional, Snowden, Julie, additional, Allinson, Kieren, additional, Green, Oliver, additional, Rowe, James B, additional, Singh, Poonam, additional, Beach, Thomas G, additional, Serrano, Geidy E, additional, Flowers, Xena E, additional, Goldman, James E, additional, Heaps, Allison C, additional, Leskinen, Sandra P, additional, Teich, Andrew F, additional, Black, Sandra E, additional, Keith, Julia L, additional, Masellis, Mario, additional, Bodi, Istvan, additional, King, Andrew, additional, Sarraj, Safa-Al, additional, Troakes, Claire, additional, Halliday, Glenda M, additional, Hodges, John R, additional, Kril, Jillian J, additional, Kwok, John B, additional, Piguet, Olivier, additional, Gearing, Marla, additional, Arzberger, Thomas, additional, Roeber, Sigrun, additional, Attems, Johannes, additional, Morris, Christopher M, additional, Thomas, Alan J, additional, Evers, Bret M., additional, White, Charles L, additional, Mechawar, Naguib, additional, Sieben, Anne A, additional, Cras, Patrick P, additional, De Vil, Bart B, additional, De Deyn, Peter Paul P.P., additional, Duyckaerts, Charles, additional, Ber, Isabelle Le, additional, Seihean, Danielle, additional, Turbant-Leclere, Sabrina, additional, MacKenzie, Ian R, additional, McLean, Catriona, additional, Cykowski, Matthew D, additional, Ervin, John F, additional, Wang, Shih-Hsiu J, additional, Graff, Caroline, additional, Nennesmo, Inger, additional, Nagra, Rashed M, additional, Riehl, James, additional, Kovacs, Gabor G, additional, Giaccone, Giorgio, additional, Nacmias, Benedetta, additional, Neumann, Manuela, additional, Ang, Lee-Cyn, additional, Finger, Elizabeth C, additional, Blauwendraat, Cornelis, additional, Nalls, Mike A, additional, Singleton, Andrew B, additional, Vitale, Dan, additional, Cunha, Cristina, additional, Carvalho, Agostinho, additional, Wszolek, Zbigniew K, additional, Morris, Huw R, additional, Rademakers, Rosa, additional, Hardy, John A, additional, Dickson, Dennis W, additional, Rohrer, Jonathan D, additional, and Ross, Owen A, additional
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- 2023
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49. Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials
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Street, Duncan, primary, Jabbari, Edwin, additional, Costantini, Alyssa, additional, Jones, P Simon, additional, Holland, Negin, additional, Rittman, Timothy, additional, Jensen, Marte T, additional, Chelban, Viorica, additional, Goh, Yen Y, additional, Guo, Tong, additional, Heslegrave, Amanda J, additional, Roncaroli, Federico, additional, Klein, Johannes C, additional, Ansorge, Olaf, additional, Allinson, Kieren S J, additional, Jaunmuktane, Zane, additional, Revesz, Tamas, additional, Warner, Thomas T, additional, Lees, Andrew J, additional, Zetterberg, Henrik, additional, Russell, Lucy L, additional, Bocchetta, Martina, additional, Rohrer, Jonathan D, additional, Burn, David J, additional, Pavese, Nicola, additional, Gerhard, Alexander, additional, Kobylecki, Christopher, additional, Leigh, P Nigel, additional, Church, Alistair, additional, Hu, Michele T M, additional, Houlden, Henry, additional, Morris, Huw, additional, and Rowe, James B, additional
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- 2023
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50. MAPT‐Associated Familial Progressive Supranuclear Palsy with Typical Corticobasal Degeneration Neuropathology: A Clinicopathological Report
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Cullinane, Patrick W., primary, Fumi, Riona, additional, Theilmann Jensen, Marte, additional, Jabbari, Edwin, additional, Warner, Thomas T., additional, Revesz, Tamas, additional, Morris, Huw R., additional, Rohrer, Jonathan D., additional, and Jaunmuktane, Zane, additional
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- 2023
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