846 results on '"Noyce, Alastair"'
Search Results
2. Bidirectional relationship between olfaction and Parkinson’s disease
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Kim, Jonggeol Jeffrey, Bandres-Ciga, Sara, Heilbron, Karl, Blauwendraat, Cornelis, and Noyce, Alastair J.
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- 2024
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3. A systematic review and meta-analysis of the prevalence of Parkinson’s disease in lower to upper-middle-income countries
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Pereira, Gabriela Magalhães, Teixeira-dos-Santos, Daniel, Soares, Nayron Medeiros, Marconi, Gabriel Alves, Friedrich, Deise Cristine, Saffie Awad, Paula, Santos-Lobato, Bruno Lopes, Brandão, Pedro Renato P., Noyce, Alastair J., Marras, Connie, Mata, Ignacio F., Rieder, Carlos Roberto de Mello, and Schuh, Artur Francisco Schumacher
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- 2024
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4. AccessPD as a next generation registry to accelerate Parkinson’s disease research
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Chang, Yun-Hsuan, Periñan, Maria Teresa, Wilson, Matt, and Noyce, Alastair J.
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- 2024
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5. Tackling the growing burden of nitrous oxide-induced public health harms
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Zaloum, Safiya A, Mair, Devan, Paris, Alvar, Smith, Laura J, Patyjewicz, Marta, Onen, Barbara L, and Noyce, Alastair J
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- 2025
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6. Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease
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Kim, Jonggeol Jeffrey, Vitale, Dan, Otani, Diego Véliz, Lian, Michelle Mulan, Heilbron, Karl, Iwaki, Hirotaka, Lake, Julie, Solsberg, Caroline Warly, Leonard, Hampton, Makarious, Mary B., Tan, Eng-King, Singleton, Andrew B., Bandres-Ciga, Sara, Noyce, Alastair J., Blauwendraat, Cornelis, Nalls, Mike A., Foo, Jia Nee, and Mata, Ignacio
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- 2024
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7. Modifiable risk factors for multiple sclerosis have consistent directions of effect across diverse ethnic backgrounds: a nested case–control study in an English population-based cohort
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Jacobs, Benjamin M., Tank, Pooja, Bestwick, Jonathan P., Noyce, Alastair J., Marshall, Charles R., Mathur, Rohini, Giovannoni, Gavin, and Dobson, Ruth
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- 2024
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8. Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic
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Lim, Shen-Yang, Tan, Ai Huey, Ahmad-Annuar, Azlina, Okubadejo, Njideka Ulunma, Lohmann, Katja, Morris, Huw R, Toh, Tzi Shin, Tay, Yi Wen, Lange, Lara M, Bandres-Ciga, Sara, Mata, Ignacio, Foo, Jia Nee, Sammler, Esther, Ooi, Joshua Chin Ern, Noyce, Alastair J, Bahr, Natascha, Luo, Wei, Ojha, Rajeev, Singleton, Andrew B, Blauwendraat, Cornelis, and Klein, Christine
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- 2024
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9. The effect of tactile cueing on dual task performance in Parkinson’s disease. A systematic review and meta-analysis
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Azoidou, Viktoria, Noyce, Alastair J, and Simonet, Cristina
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- 2024
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10. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study
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Okubadejo, Njideka, Ojo, Oluwadamilola, Abiodun, Oladunni, Achoru, Charles, Agabi, Osigwe, Agulanna, Uchechi, Akinyemi, Rufus, Ali, Mohammed, Ani-Osheku, Ifeyinwa, Arigbodi, Ohwotemu, Bello, Abiodun, Erameh, Cyril, Farombi, Temitope, Fawale, Michael, Imarhiagbe, Frank, Iwuozo, Emmanuel, Komolafe, Morenikeji, Nwani, Paul, Nwazor, Ernest, Nyandaiti, Yakub, Obiabo, Yahaya, Odeniyi, Olanike, Odiase, Francis, Ojini, Francis, Onwuegbuzie, Gerald, Osaigbovo, Godwin, Osemwegie, Nosakhare, Oshinaike, Olajumoke, Otubogun, Folajimi, Oyakhire, Shyngle, Ozomma, Simon, Samuel, Sarah, Taiwo, Funmilola, Wahab, Kolawole, Zubair, Yusuf, Gams Massi, Daniel, Gueumekane Bila lamou, Eric, Njamnshi Nfor, Leonard, Magnerou, Mélanie Annick, Fogang Fogoum, Yannick, Shalash, Ali, El-FawaI, Hassan, Khedr, Eman, Fawi, Gharib, A. Eltantawi, Mohamed, Salama, Mohamed, El-Jaafary, Shaimaa, Hamed, Sharifa, Tafesse Mengesha, Abenet, Alemayehu Ayele, Biniyam, Melka Oda, Dereje, Zenebe Zewde, Yared, Debebe Gelan, Yohanesse, AkpaIu, Albert, Charway-Felli, Augustina, Stephen Sarfo, Fred, Adjei, Patrick, Obese, Vida, Bocoum, Abdoulaye, Koita, Abdou, Oumar Guinto, Cheick, Coulibaly, Toumany, Maiga, Youssoufa, Kone, Zaynab, Bell, Abiodun, Adebowale, Akintunde A., Akpekpe, John, lyagba, Alagoma, Wulgo, Ali Mohammed, Arabambi, Babawale, Agu, Christian, Dike, Franklin, Ishola, Ismail, Abiodun, Kehinde, Ekenze, Oluchi, Agabi Osigwe, Paul, Balarabe, Salisu, Abubakar, Sani, Williams, Uduak, Fall, Maouly, Mamadou Diop, Alassane, Hilaire Dominique, Ewodo Touna, Mochan, Andre, Modi, Girish, Dindayal, Saiesha, Ali Awadelkareem, Eman, Elsayed, Inas, Dahawi, Maha, Awadelkareem, Mosab Ali, Misbah, Sarah, Mushengez, Brighton, Kimambo, Henrika, Msango, Leonard, Adebayo, Philip, OKeng, Kigocha, Diekker, Marieke, URassa, Sarah, Gouider, Riadh, Ben Djebara, Mouna, Gargouri, Amina, Kacem, Imen, Nasri, Amina, Mrabet, Saloua, Sghaier, Ikram, Mkada, Imen, Atadzhanov, Masharip, Chishimba, Lorraine, Rizig, Mie, Jama, Fatumah, Okunoye, Olaitan, Hardy, John, Houlden, Henry, Singleton, Andrew, Nalls, Mike, Shamim, Ejaz, Jonas, Cabell, Williamson, Jared, Hall, Deborah A., Rosenbaum, Marc, Davis, Staci, Dean, Marissa, Cromer, Candace, Smith, Jenna, Ruffrage, Lauren, Richardson, Joseph, Sipma, Rebeka, Xie, Tao, Padmanaban, Manesh, Warren, Natalie, Mercado, Tomas, Disbrow, Elizabeth, Chauppeta, Brian, Thomas-Dean, Fermine, Toms, Jamie, Lofton, Katelyn, Rawls, Ashley, Rizer, Kyle, Black, Nieci, Solle, Justin, O'Grady, Alyssa, Sherer, Todd, Fiske, Brian, Başak, A. Nazlı, Tan, Ai Huey, Noyce, Alastair, Akpalu, Albert, Espay, Alberto, Martínez-Carrasco, Alejandro, Medina, Alex, Zimprich, Alexander, Brice, Alexis, Karimova, Altynay, Hernandez, Alvaro, Illarionova, Anastasia, Quattrone, Andrea, Singleton, Andrew B, Sobering, Andrew K., Vinuela, Angel, Sanyaolu, Arinola, Schumacher-Schuh, Artur F., Kishore, Asha, Ahmad-Annuar, Azlina, Al Mubarak, Bashayer, Tang, Beisha, Pizarro Galleguillos, Benjamin, Jeon, Beomseok, Siddiqi, Bernadette, Casey, Bradford, Mollenhauer, Brit, Carroll, Camille, Rieder, Carlos, Pantazis, Caroline B., Comart, Charisse, Lin, Chin-Hsien, Klein, Christine, Bale, Claire, Shepherd, Claire E, Wegel, Claire, Blauwendraat, Cornelis, Vitale, Dan, Martinez-Ramirez, Daniel, Hall, Deborah, Hernandez, Dena, KP, Divya, Nguyen, Duan, Fon, Edward A., Dadiotis, Efthymios, Riley, Ekemini, Iakovenko, Elena, Stafford, Ellie, Gatto, Emilia M, Valente, Enza Maria, Vollstedt, Eva-Juliane, Faghri, Faraz, Genc, Gencer, Xiromerisiou, Georgia, Hadjigorgiou, Georgios, Hiu-Fai Chan, Germaine, Arboleda, Gonzalo, Kaishibayeva, Gulnaz, Höglinger, Günter, Leonard, Hampton, Madoev, Harutyun, Iwaki, Hirotaka, Chen, Honglei, Wu, Hsiu-Chuan, Shang, Huifang, Morris, Huw R, F. Mata, Ignacio, Keller Sarmiento, Ignacio Juan, Dagklis, Ioannis, Tarnanas, Ioannis, Aasly, Jan O., Hoenicka, Janet, Corvol, Jean-Christophe, Foo, Jia Nee, Guo, Jifeng, Junker, Johanna, Carr, Jonathan, Kim, Jonggeol Jeff, Orozco, Jorge, Jankovic, Joseph, Shulman, Joshua, Hunter, Julie, Solle, Justin C., Murphy, Kaileigh, Nuytemans, Karen, Kieburtz, Karl, Lohmann, Katja, Marek, Kenneth, Mok, Kin Ying, Kumar, Kishore, Levine, Kristin, Chahine, Lana M., Lange, Lara M., Pihlstrøm, Lasse, Screven, Laurel, Stefanis, Leonidas, Shulman, Lisa, Marsili, Luca, Parnetti, Lucilla, Kuhl, Maggie, Funayama, Manabu, Sharma, Manu, Tan, Manuela, Kauffman, Marcelo, Miranda, Marcelo, Bustamante, Maria Leonor, Stamelou, Maria, Periñan Tocino, Maria Teresa, Cornejo-Olivas, Mario, Jimenez del Rio, Marlene, Makarious, Mary B, Koretsky, Mathew, Rodriguez-Violante, Mayela, Ellis, Melina, Avenali, Micol, Rentería, Miguel E., Inca-Martines, Miguel z, Nalls, Mike A., Ibrahim Norlinah, Mohamed, Umair, Muhammad, Ip, Nancy, Louie, Naomi, Cheung, Nelson Yuk-Fai, Mencacci, Niccolò Emanuele, Wood, Nicholas, Williams, Nigel, Hattori, Nobutaka, Abdul Murad, Nor Azian, Ibrahim, Norlinah Mohamed, Monchi, Oury, Öztop Çakmak, Özgür, Öztop Çakmak, Patricio Öztop Çakmak, Lewis, Patrick Alfryn, Pastor, Pau, Reyes-Pérez, Paula, Saffie Awad, Paula, Chana, Pedro, Chan, Phillip, Kung, Pin-Jui, Chan, Piu, Pal, Pramod, Lingappa Kukkle, Prashanth, Ojha, Rajeev, Kaiyrzhanov, Rauan, Krüger, Rejko, Amouri, Rim, Weil, Rimona, Rajan, Roopa, Alcalay, Roy, Wu, Ruey-Meei, Borgohain, Rupam, Sassi, Samia Ben, Khachatryan, Samson, Bandres-Ciga, Sara, El-Sadig, Sarah, Wu, Serena, Groppa, Sergio, Azmin, Shahrul, Lim, Shen-Yang, Ur-Rehman, Shoaib, Ertan, Sibel, Stott, Simon, Jasaitye, Simona, Chowdhury, Sohini, Dumanis, Sonya, Bardien, Soraya, Lubbe, Steven, Koks, Sulev, Dey, Sumit, Foroud, Tatiana, Fon, Ted, Beach, Thomas, Gasser, Thomas, Anderson, Tim, Nguyen, Toan, Schirinzi, Tommaso, Shiraishi, Tomotaka, Pitcher, Toni, Tumas, Vitor, Mohamed, Wael, Kamel, Walaa A., Luo, Wei, Zhou, Xiaopu, Zewde, Yared Z., Song, Yeajin, Wen, Yi, Wu, Yihru, Joong Kim, Yun, Tavadyan, Zaruhi, Fang, Zih-Hua, Ojo, Oluwadamilola Omolara, Crea, Peter Wild, Abiodun, Oladunni Victoria, Levine, Kristin S, Abubakar, Sani Atta, Achoru, Charles Obiora, Adeniji, Olaleye Akinmola, Agabi, Osigwe Paul, Koretsky, Mathew J, Hall, Deborah A, Akinyemi, Rufus Olusola, Ali, Mohammed Wulgo, Shamim, Ejaz A, Padmanaban, Mahesh, Arigbodi, Ohwotemu Michael, Standaert, David G, Bello, Abiodun Hamzat, Dean, Marissa N, Erameh, Cyril Oshomah, Farombi, Temitope Hannah, Fawale, Michael Bimbola, Billingsley, Kimberley J, Imarhiagbe, Frank Aiwansoba, Jerez, Pilar Alvarez, Iwuozo, Emmanuel Uzodinma, Baker, Breeana, Komolafe, Morenikeji Adeyoyin, Malik, Laksh, Nwani, Paul Osemeke, Daida, Kensuke, Nwazor, Ernest Okwundu, Miano-Burkhardt, Abigail, Nyandaiti, Yakub Wilberforce, Obiabo, Yahaya Olugbo, Kluss, Jillian H, Odeniyi, Olanike Adedoyin, Hernandez, Dena G, Odiase, Francis Ehidiamen, Tayebi, Nahid, Ojini, Francis Ibe, Sidranksy, Ellen, Onwuegbuzie, Gerald Awele, D'Souza, Andrea M, Osaigbovo, Godwin Osawaru, Berhe, Bahafta, Reed, Xylena, Oshinaike, Olajumoke Olufemi, Leonard, Hampton L, Otubogun, Folajimi Morenikeji, Alvarado, Chelsea X, Oyakhire, Shyngle Imiewan, Ozomma, Simon Izuchukwu, Samuel, Sarah Chabiri, Taiwo, Funmilola Tolulope, Wahab, Kolawole Wasiu, Zubair, Yusuf Agboola, Kim, Jonggeol Jeffrey, Nalls, Mike A, Heilbron, Karl, Norcliffe-Kaufmann, Lucy, and Okubadejo, Njideka Ulunma
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- 2023
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11. Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study
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Toffoli, Marco, Chohan, Harneek, Mullin, Stephen, Jesuthasan, Aaron, Yalkic, Selen, Koletsi, Sofia, Menozzi, Elisa, Rahall, Soraya, Limbachiya, Naomi, Loefflad, Nadine, Higgins, Abigail, Bestwick, Jonathan, Lucas-Del-Pozo, Sara, Fierli, Federico, Farbos, Audrey, Mezabrovschi, Roxana, Lee-Yin, Chiao, Schrag, Anette, Moreno-Martinez, David, Hughes, Derralynn, Noyce, Alastair, Colclough, Kevin, Jeffries, Aaron R., Proukakis, Christos, and Schapira, Anthony H.V.
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- 2023
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12. Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
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Leonard, Hampton L., Murtadha, Ruqaya, Martinez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martinez, Ana-Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Alvarez Jerez, Pilar, Saini, Prabhjyot, al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, and Noyce, Alastair J.
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- 2023
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13. The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
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Leonard, Hampton L., Murtadha, Ruqaya, Martinez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martinez, Ana-Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Alvarez Jerez, Pilar, Saini, Prabhjyot, al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, and Noyce, Alastair J.
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- 2023
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14. Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease
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Alvarez Jerez, Pilar, Alcantud, Jose Luis, de los Reyes-Ramírez, Lucia, Moore, Anni, Ruz, Clara, Vives Montero, Francisco, Rodriguez-Losada, Noela, Saini, Prabhjyot, Gan-Or, Ziv, Alvarado, Chelsea X., Makarious, Mary B., Billingsley, Kimberley J., Blauwendraat, Cornelis, Noyce, Alastair J., Singleton, Andrew B., Duran, Raquel, and Bandres-Ciga, Sara
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- 2023
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15. Dementia prevention in memory clinics: recommendations from the European task force for brain health services
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Frisoni, Giovanni B., Altomare, Daniele, Ribaldi, Federica, Villain, Nicolas, Brayne, Carol, Mukadam, Naaheed, Abramowicz, Marc, Barkhof, Frederik, Berthier, Marcelo, Bieler-Aeschlimann, Melanie, Blennow, Kaj, Brioschi Guevara, Andrea, Carrera, Emmanuel, Chételat, Gaël, Csajka, Chantal, Demonet, Jean-François, Dodich, Alessandra, Garibotto, Valentina, Georges, Jean, Hurst, Samia, Jessen, Frank, Kivipelto, Miia, Llewellyn, David J., McWhirter, Laura, Milne, Richard, Minguillón, Carolina, Miniussi, Carlo, Molinuevo, José Luis, Nilsson, Peter M., Noyce, Alastair, Ranson, Janice M., Grau-Rivera, Oriol, Schott, Jonathan M., Solomon, Alina, Stephen, Ruth, van der Flier, Wiesje, van Duijn, Cornelia, Vellas, Bruno, Visser, Leonie N.C., Cummings, Jeffrey L., Scheltens, Philip, Ritchie, Craig, and Dubois, Bruno
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- 2023
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16. Towards a global view of multiple sclerosis genetics
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Jacobs, Benjamin Meir, Peter, Michelle, Giovannoni, Gavin, Noyce, Alastair J., Morris, Huw R., and Dobson, Ruth
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- 2022
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17. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
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Nalls, Mike A, Blauwendraat, Cornelis, Vallerga, Costanza L, Heilbron, Karl, Bandres-Ciga, Sara, Chang, Diana, Tan, Manuela, Kia, Demis A, Noyce, Alastair J, Xue, Angli, Bras, Jose, Young, Emily, von Coelln, Rainer, Simón-Sánchez, Javier, Schulte, Claudia, Sharma, Manu, Krohn, Lynne, Pihlstrøm, Lasse, Siitonen, Ari, Iwaki, Hirotaka, Leonard, Hampton, Faghri, Faraz, Gibbs, J Raphael, Hernandez, Dena G, Scholz, Sonja W, Botia, Juan A, Martinez, Maria, Corvol, Jean-Christophe, Lesage, Suzanne, Jankovic, Joseph, Shulman, Lisa M, Sutherland, Margaret, Tienari, Pentti, Majamaa, Kari, Toft, Mathias, Andreassen, Ole A, Bangale, Tushar, Brice, Alexis, Yang, Jian, Gan-Or, Ziv, Gasser, Thomas, Heutink, Peter, Shulman, Joshua M, Wood, Nicholas W, Hinds, David A, Hardy, John A, Morris, Huw R, Gratten, Jacob, Visscher, Peter M, Graham, Robert R, Singleton, Andrew B, Team, 23andMe Research, Consortium, System Genomics of Parkinson's Disease, Consortium, International Parkinson's Disease Genomics, Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Chelban, Viorica, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, and Finkbeiner, Steven
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Neurosciences ,Parkinson's Disease ,Brain Disorders ,Aging ,Biotechnology ,Prevention ,Genetics ,Human Genome ,Neurodegenerative ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Databases ,Genetic ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Parkinson Disease ,Risk Factors ,23andMe Research Team ,System Genomics of Parkinson's Disease Consortium ,International Parkinson's Disease Genomics Consortium ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
BackgroundGenome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease.MethodsWe did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation.FindingsBetween Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16-36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10-7).InterpretationThese data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data.FundingThe National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources).
- Published
- 2019
18. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease
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Bandres‐Ciga, Sara, Saez‐Atienzar, Sara, Bonet‐Ponce, Luis, Billingsley, Kimberley, Vitale, Dan, Blauwendraat, Cornelis, Gibbs, Jesse Raphael, Pihlstrøm, Lasse, Gan‐Or, Ziv, Noyce, Alastair J, Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Morris, Huw R, Plun‐Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Bras, Jose, Quinn, John, Mok, Kin Y, Kinghorn, Kerri J, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, RņBibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott‐Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean‐Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, SimɃn‐Sȥnchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R, Craig, David W, Faghri, Faraz, Gibbs, J Raphael, Hernandez, Dena G, Van Keuren‐Jensen, Kendall, Shulman, Joshua M, Iwaki, Hirotaka, Leonard, Hampton L, Nalls, Mike A, Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E, Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W, Reed, Xylena, Alcalay, Roy N, Rouleau, Guy A, Hilten, Jacobus J, Marinus, Johan, Adarmes‐GɃmez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesɐs Alberto Bergareche, Bernal‐Bernal, Inmaculada, Blazquez, Marta, Bonilla‐Toribio, Marta, Botȷa, Juan A, Boungiorno, Marȷa Teresa, Buiza‐Rueda, Dolores, Cȥmara, Ana, Carrillo, Fȥtima, CarriɃn‐Claro, Mario, Cerdan, Debora, ClarimɃn, Jordi, Compta, Yaroslau, Casa, Beatrȷz, Diez‐Fairen, Monica, Dols‐Icardo, Oriol, and Duarte, Jacinto
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Parkinson's Disease ,Human Genome ,Genetics ,Neurosciences ,Brain Disorders ,Prevention ,Neurodegenerative ,Genetic Testing ,2.3 Psychological ,social and economic factors ,2.1 Biological and endogenous factors ,Aetiology ,Decent Work and Economic Growth ,Endocytosis ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Mendelian Randomization Analysis ,Parkinson Disease ,Polymorphism ,Single Nucleotide ,Quantitative Trait Loci ,Risk Factors ,International Parkinson's Disease Genomics Consortium ,Parkinson's disease ,endocytosis ,genetic risk ,heritability ,polygenic risk score ,Clinical Sciences ,Human Movement and Sports Sciences ,Neurology & Neurosurgery - Abstract
BackgroundPD is a complex polygenic disorder. In recent years, several genes from the endocytic membrane-trafficking pathway have been suggested to contribute to disease etiology. However, a systematic analysis of pathway-specific genetic risk factors is yet to be performed.ObjectivesTo comprehensively study the role of the endocytic membrane-trafficking pathway in the risk of PD.MethodsLinkage disequilibrium score regression was used to estimate PD heritability explained by 252 genes involved in the endocytic membrane-trafficking pathway including genome-wide association studies data from 18,869 cases and 22,452 controls. We used pathway-specific single-nucleotide polymorphisms to construct a polygenic risk score reflecting the cumulative risk of common variants. To prioritize genes for follow-up functional studies, summary-data based Mendelian randomization analyses were applied to explore possible functional genomic associations with expression or methylation quantitative trait loci.ResultsThe heritability estimate attributed to endocytic membrane-trafficking pathway was 3.58% (standard error = 1.17). Excluding previously nominated PD endocytic membrane-trafficking pathway genes, the missing heritability was 2.21% (standard error = 0.42). Random heritability simulations were estimated to be 1.44% (standard deviation = 0.54), indicating that the unbiased total heritability explained by the endocytic membrane-trafficking pathway was 2.14%. Polygenic risk score based on endocytic membrane-trafficking pathway showed a 1.25 times increase of PD risk per standard deviation of genetic risk. Finally, Mendelian randomization identified 11 endocytic membrane-trafficking pathway genes showing functional consequence associated to PD risk.ConclusionsWe provide compelling genetic evidence that the endocytic membrane-trafficking pathway plays a relevant role in disease etiology. Further research on this pathway is warranted given that critical effort should be made to identify potential avenues within this biological process suitable for therapeutic interventions. © 2019 International Parkinson and Movement Disorder Society.
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- 2019
19. Isolated REM sleep behaviour disorder: current diagnostic procedures and emerging new technologies
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Bramich, Samantha, King, Anna, Kuruvilla, Maneesh, Naismith, Sharon L., Noyce, Alastair, and Alty, Jane
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- 2022
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20. Age-specific effects of childhood body mass index on multiple sclerosis risk
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Hone, Luke, Jacobs, Benjamin M., Marshall, Charles, Giovannoni, Gavin, Noyce, Alastair, and Dobson, Ruth
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- 2022
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21. AccessPD as a next generation registry to accelerate Parkinson's disease research
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Noyce, Alastair J. [0000-0003-3027-5497], Chang, Yun-Hsuan, Periñán, María Teresa, Wilson, Matt, Noyce, Alastair J., Noyce, Alastair J. [0000-0003-3027-5497], Chang, Yun-Hsuan, Periñán, María Teresa, Wilson, Matt, and Noyce, Alastair J.
- Abstract
Recruitment is a major rate-limiting factor in Parkinson's disease (PD) research. AccessPD is a unique platform that aims to create a registry of more than 2000 PD patients and a rich database of PD-relevant information. Potential participants are identified using electronic health records (EHRs) in primary care. They are contacted via text message with an individualized link to the study portal. Electronic patient-reported outcomes (ePRO) are collected via online questionnaires and integrated with existing EHR. 200 participants were recruited within the first 6 months, of which 191 answered the follow-up questionnaire. Here, to showcase the potential of AccessPD, we described the most common diagnoses before and after PD diagnosis, the most commonly prescribed drugs, and identified participants who could benefit from device-aided therapies using consensus criteria. AccessPD shows its unique ability to link different data sources for patient stratification in longitudinal studies and recruitment into clinical trials.
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- 2024
22. The shared genetic architecture of modifiable risk for Alzheimer's disease: a genomic structural equation modelling study
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Foote, Isabelle F, Jacobs, Benjamin M, Mathlin, Georgina, Watson, Cameron J, Bothongo, Phazha LK, Waters, Sheena, Dobson, Ruth, Noyce, Alastair J, Bhui, Kamaldeep S, Korszun, Ania, and Marshall, Charles R
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- 2022
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23. Hand Motor Dysfunction Is Associated with Both Subjective and Objective Cognitive Impairment across the Dementia Continuum.
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Rudd, Kaylee D., Lawler, Katherine, Callisaya, Michele L., Bindoff, Aidan D., Chiranakorn-Costa, Sigourney, Li, Renjie, McDonald, James S., Salmon, Katharine, Noyce, Alastair J., Vickers, James C., and Alty, Jane
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HAND physiology ,DIAGNOSIS of dementia ,RECEIVER operating characteristic curves ,MILD cognitive impairment ,EXECUTIVE function ,MOVEMENT disorders ,DIAGNOSIS ,GAIT in humans ,COGNITION disorders ,NEUROPSYCHOLOGICAL tests ,MEMORY ,BODY movement ,BIOMARKERS - Abstract
Introduction: Motor dysfunction is an important feature of early-stage dementia. Gait provides a non-invasive biomarker across the dementia continuum. Gait speed and rhythm aid risk stratification of incident dementia in subjective cognitive impairment (SCI) and are associated with cognitive domains in mild cognitive impairment (MCI) and dementia. However, hand movement analysis, which may be more accessible, has never been undertaken in SCI and rarely in MCI or dementia. We aimed to address this gap and improve understanding of hand motor-cognitive associations across the dementia continuum. Methods: A total of 208 participants were recruited: 50 with dementia, 58 MCI, 40 SCI, and 60 healthy controls. Consensus diagnoses were made after comprehensive gold-standard assessments. A computer key-tapping test measured frequency, dwell-time, rhythm, errors, and speed. Associations between key-tapping and cognitive domains and diagnoses were analysed using regression. Classification accuracy was measured using area under receiver operating characteristic curves. Results: Hand frequency and speed were associated with memory and executive domains (p ≤ 0.001). Non-dominant hand rhythm was associated with all cognitive domains. Frequency, rhythm, and speed were associated with SCI, MCI, and dementia. Frequency and speed classified ≥94% of dementia and ≥88% of MCI from controls. Rhythm of the non-dominant hand classified ≥86% of dementia and MCI and 69% of SCI. Conclusion: Our findings show hand motor dysfunction occurs across the dementia continuum and, similar to gait, is associated with executive and memory domains and with cognitive diagnoses. Key-tapping performance differentiated dementia and MCI from healthy controls. More research is required before recommending key-tapping as a non-invasive motor biomarker of cognitive impairment. Plain Language Summary: Dementia affects motor function as well as memory and cognition. It causes subtle changes in the brain that accumulate over many years, affecting the speed and rhythm of movements before manifesting as cognitive impairment. Detecting these dementia-related changes in movement can aid in detecting those who may be at risk of developing dementia in the future. To understand the dementia-related changes in hand movements, we invited a group of participants from patients attending a cognitive clinic. All patients underwent a comprehensive clinical assessment. We also invited a group of healthy participants for comparison. A simple 60 s online computer key-tapping test was used to test hand movement. We examined features of key-tapping performance including frequency, speed, number of incorrect taps, and rhythm. Clinic participants were grouped by diagnosis as subjective cognitive impairment, mild cognitive impairment, and dementia. Key-tapping performance of each group was compared with the healthy participants' performance. We found that key-tapping performance declines progressively with the increase in severity of cognitive impairment, with the dementia group having the most impaired key-tapping performance. Using the hand movement test, we correctly identified more than 80% of patients with mild cognitive impairment and dementia from the healthy group. The computer key-tapping test is simple, quick, and can be accessed online. It has the potential to be used as a screening tool for people with cognitive symptoms. [ABSTRACT FROM AUTHOR]
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- 2025
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24. Dementia risk in a diverse population: A single-region nested case-control study in the East End of London
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Bothongo, Phazha L.K., Jitlal, Mark, Parry, Eve, Waters, Sheena, Foote, Isabelle F., Watson, Cameron J., Cuzick, Jack, Giovannoni, Gavin, Dobson, Ruth, Noyce, Alastair J., Mukadam, Naaheed, Bestwick, Jonathan P., and Marshall, Charles R.
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- 2022
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25. Assessing cognitive dysfunction in Parkinson's disease: An online tool to detect visuo‐perceptual deficits
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Weil, Rimona S, Schwarzkopf, Dietrich S, Bahrami, Bahador, Fleming, Stephen M, Jackson, Ben M, Goch, Tristam JC, Saygin, Ayse P, Miller, Luke E, Pappa, Katerina, Pavisic, Ivanna, Schade, Rachel N, Noyce, Alastair J, Crutch, Sebastian J, O'Keeffe, Aidan G, Schrag, Anette E, and Morris, Huw R
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Clinical Research ,Dementia ,Aging ,Acquired Cognitive Impairment ,Parkinson's Disease ,Neurodegenerative ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Mental health ,Adult ,Aged ,Aged ,80 and over ,Cognition Disorders ,Female ,Humans ,Male ,Middle Aged ,Motion Perception ,Neuropsychological Tests ,Online Systems ,Parkinson Disease ,Perceptual Disorders ,Psychomotor Performance ,Recognition ,Psychology ,Signal Detection ,Psychological ,Visual Acuity ,Visual Perception ,Parkinson's disease ,vision ,perception ,hallucinations ,signal detection theory ,Human Movement and Sports Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
BackgroundPeople with Parkinson's disease (PD) who develop visuo-perceptual deficits are at higher risk of dementia, but we lack tests that detect subtle visuo-perceptual deficits and can be performed by untrained personnel. Hallucinations are associated with cognitive impairment and typically involve perception of complex objects. Changes in object perception may therefore be a sensitive marker of visuo-perceptual deficits in PD.ObjectiveWe developed an online platform to test visuo-perceptual function. We hypothesised that (1) visuo-perceptual deficits in PD could be detected using online tests, (2) object perception would be preferentially affected, and (3) these deficits would be caused by changes in perception rather than response bias.MethodsWe assessed 91 people with PD and 275 controls. Performance was compared using classical frequentist statistics. We then fitted a hierarchical Bayesian signal detection theory model to a subset of tasks.ResultsPeople with PD were worse than controls at object recognition, showing no deficits in other visuo-perceptual tests. Specifically, they were worse at identifying skewed images (P
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- 2018
26. Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts
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Dadu, Anant, Satone, Vipul, Kaur, Rachneet, Hashemi, Sayed Hadi, Leonard, Hampton, Iwaki, Hirotaka, Makarious, Mary B., Billingsley, Kimberley J., Bandres‐Ciga, Sara, Sargent, Lana J., Noyce, Alastair J., Daneshmand, Ali, Blauwendraat, Cornelis, Marek, Ken, Scholz, Sonja W., Singleton, Andrew B., Nalls, Mike A., Campbell, Roy H., and Faghri, Faraz
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- 2022
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27. Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects
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Krohn, Lynne, Heilbron, Karl, Blauwendraat, Cornelis, Reynolds, Regina H., Yu, Eric, Senkevich, Konstantin, Rudakou, Uladzislau, Estiar, Mehrdad A., Gustavsson, Emil K., Brolin, Kajsa, Ruskey, Jennifer A., Freeman, Kathryn, Asayesh, Farnaz, Chia, Ruth, Arnulf, Isabelle, Hu, Michele T. M., Montplaisir, Jacques Y., Gagnon, Jean-François, Desautels, Alex, Dauvilliers, Yves, Gigli, Gian Luigi, Valente, Mariarosaria, Janes, Francesco, Bernardini, Andrea, Högl, Birgit, Stefani, Ambra, Ibrahim, Abubaker, Šonka, Karel, Kemlink, David, Oertel, Wolfgang, Janzen, Annette, Plazzi, Giuseppe, Biscarini, Francesco, Antelmi, Elena, Figorilli, Michela, Puligheddu, Monica, Mollenhauer, Brit, Trenkwalder, Claudia, Sixel-Döring, Friederike, Cochen De Cock, Valérie, Monaca, Christelle Charley, Heidbreder, Anna, Ferini-Strambi, Luigi, Dijkstra, Femke, Viaene, Mineke, Abril, Beatriz, Boeve, Bradley F., Scholz, Sonja W., Ryten, Mina, Bandres-Ciga, Sara, Noyce, Alastair, Cannon, Paul, Pihlstrøm, Lasse, Nalls, Mike A., Singleton, Andrew B., Rouleau, Guy A., Postuma, Ronald B., and Gan-Or, Ziv
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- 2022
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28. Developing and assessing a new web-based tapping test for measuring distal movement in Parkinson’s disease: a Distal Finger Tapping test
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Akram, Noreen, Li, Haoxuan, Ben-Joseph, Aaron, Budu, Caroline, Gallagher, David A., Bestwick, Jonathan P., Schrag, Anette, Noyce, Alastair J., and Simonet, Cristina
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- 2022
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29. A population scale analysis of rare SNCA variation in the UK Biobank
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Blauwendraat, Cornelis, Makarious, Mary B., Leonard, Hampton L., Bandres-Ciga, Sara, Iwaki, Hirotaka, Nalls, Mike A., Noyce, Alastair J., and Singleton, Andrew B.
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- 2021
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30. Nitrous oxide abuse direct measurement for diagnosis and follow-up: update on kinetics and impact on metabolic pathways.
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Lucas, Angèle, Noyce, Alastair J., Gernez, Emeline, El Khoury, Joe M., Garcon, Guillaume, Cavalier, Etienne, Antherieu, Sébastien, and Grzych, Guillaume
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- *
FOLIC acid , *VITAMIN B12 , *METHYLMALONIC acid , *NITROUS oxide - Abstract
Recreational use of nitrous oxide (N2O) has become a major health issue worldwide, with a high number of clinical events, especially in neurology and cardiology. It is essential to be able to detect and monitor N2O abuse to provide effective care and follow-up to these patients. Current recommendations for detecting N2O in cases of recreational misuse and consumption markers are lacking. We aimed to update current knowledge through a review of the literature on N2O measurement and kinetics. We reviewed the outcomes of experiments, whether in preclinical models (in vitro or in vivo), or in humans, with the aim to identify biomarkers of intoxication as well as biomarkers of clinical severity, for laboratory use. Because N2O is eliminated 5 min after inhalation, measuring it in exhaled air is of no value. Many studies have found that urine and blood matrices concentrations are connected to ambient concentrations, but there is no similar data for direct exposure. There have been no studies on N2O measurement in direct consumers. Currently, patients actively abusing N2O are monitored using effect biomarkers (biomarkers related to the effects of N2O on metabolism), such as vitamin B12, homocysteine and methylmalonic acid. [ABSTRACT FROM AUTHOR]
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- 2024
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31. Ethical Considerations for Identifying Individuals in the Prodromal/Early Phase of Parkinson's Disease: A Narrative Review.
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Schaeffer, Eva, Yilmaz, Rezzak, St. Louis, Erik K., and Noyce, Alastair J.
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PARKINSON'S disease ,SLEEP ,THERAPEUTICS ,CEREBROSPINAL fluid ,RAPID eye movement sleep ,PRODROMAL symptoms - Abstract
The ability to identify individuals in the prodromal phase of Parkinson's disease has improved in recent years, raising the question of whether and how those affected should be informed about the risk of future disease. Several studies investigated prognostic counselling for individuals with isolated REM sleep behavior disorder and have shown that most patients want to receive information about prognosis, but autonomy and individual preferences must be respected. However, there are still many unanswered questions about risk disclosure or early diagnosis of PD, including the impact on personal circumstances, cultural preferences and specific challenges associated with different profiles of prodromal symptoms, genetic testing or biomarker assessments. This narrative review aims to summarize the current literature on prognostic counselling and risk disclosure in PD, as well as highlight future perspectives that may emerge with the development of new biomarkers and their anticipated impact on the definition of PD. Plain Language Summary: An important goal of Parkinson's disease research is to diagnose the disease at an earlier stage, even before the typical motor symptoms appear, in the so-called 'prodromal phase'. Currently, there are no treatments available that can slow down or prevent disease progression in this early phase, even though many of the early symptoms are treatable. This raises ethical questions about whether people want to know their future risk of Parkinson's and, if so, how this information should be given. This article summarizes the current state of knowledge, but also open questions about risk disclosure in the prodromal phase of Parkinson's. Previous studies have shown that many people with early symptoms of Parkinson's would like to know their risk, but that the individual's wish to know (or not to know) must first be ascertained and respected. Future studies need to find out whether very early diagnosis of Parkinson's might have an impact on people affected, for example in terms of psychological stress or anxiety, and whether cultural background might influence attitudes to risk disclosure. Furthermore, it is expected that in the future it will be possible to make an early diagnosis of Parkinson's using specific new techniques, e.g., by testing spinal fluid. It is of utmost importance to find out if and how test results of these new techniques should be communicated to patients, even if they do not lead to direct medical treatment. [ABSTRACT FROM AUTHOR]
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- 2024
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32. Neuroanatomical and prognostic associations of depression in Parkinson's disease.
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Badenoch, James B., Paris, Alvar, Jacobs, Benjamin Meir, Noyce, Alastair J., Marshall, Charles R., and Waters, Sheena
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TEMPORAL lobe ,IDIOPATHIC diseases ,PATHOLOGY ,PROPORTIONAL hazards models ,PARKINSON'S disease ,APATHY - Published
- 2024
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33. Chapter 4 - Mendelian randomization and Parkinson’s disease
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Sanyaolu, Arinola O., Mohamed, Wael, Makarious, Mary B., August, Joanne L., Kekenadze, Mariam, Heilbron, Karl, Periñán, Maria T., Noyce, Alastair, and Bandrés-Ciga, Sara
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- 2025
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34. Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study
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Nalls, Mike A, McLean, Cory Y, Rick, Jacqueline, Eberly, Shirley, Hutten, Samantha J, Gwinn, Katrina, Sutherland, Margaret, Martinez, Maria, Heutink, Peter, Williams, Nigel M, Hardy, John, Gasser, Thomas, Brice, Alexis, Price, T Ryan, Nicolas, Aude, Keller, Margaux F, Molony, Cliona, Gibbs, J Raphael, Chen-Plotkin, Alice, Suh, Eunran, Letson, Christopher, Fiandaca, Massimo S, Mapstone, Mark, Federoff, Howard J, Noyce, Alastair J, Morris, Huw, Van Deerlin, Vivianna M, Weintraub, Daniel, Zabetian, Cyrus, Hernandez, Dena G, Lesage, Suzanne, Mullins, Meghan, Conley, Emily Drabant, Northover, Carrie AM, Frasier, Mark, Marek, Ken, Day-Williams, Aaron G, Stone, David J, Ioannidis, John PA, Singleton, Andrew B, and investigators*, Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative
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Aging ,Prevention ,Neurodegenerative ,Brain Disorders ,Neurosciences ,Parkinson's Disease ,Clinical Research ,2.1 Biological and endogenous factors ,4.2 Evaluation of markers and technologies ,Detection ,screening and diagnosis ,Aetiology ,4.1 Discovery and preclinical testing of markers and technologies ,Neurological ,Good Health and Well Being ,Aged ,Cohort Studies ,Disease Progression ,Female ,Humans ,Male ,Middle Aged ,Models ,Statistical ,Parkinson Disease ,Prodromal Symptoms ,Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators ,Clinical Sciences ,Neurology & Neurosurgery - Abstract
BackgroundAccurate diagnosis and early detection of complex diseases, such as Parkinson's disease, has the potential to be of great benefit for researchers and clinical practice. We aimed to create a non-invasive, accurate classification model for the diagnosis of Parkinson's disease, which could serve as a basis for future disease prediction studies in longitudinal cohorts.MethodsWe developed a model for disease classification using data from the Parkinson's Progression Marker Initiative (PPMI) study for 367 patients with Parkinson's disease and phenotypically typical imaging data and 165 controls without neurological disease. Olfactory function, genetic risk, family history of Parkinson's disease, age, and gender were algorithmically selected by stepwise logistic regression as significant contributors to our classifying model. We then tested the model with data from 825 patients with Parkinson's disease and 261 controls from five independent cohorts with varying recruitment strategies and designs: the Parkinson's Disease Biomarkers Program (PDBP), the Parkinson's Associated Risk Study (PARS), 23andMe, the Longitudinal and Biomarker Study in PD (LABS-PD), and the Morris K Udall Parkinson's Disease Research Center of Excellence cohort (Penn-Udall). Additionally, we used our model to investigate patients who had imaging scans without evidence of dopaminergic deficit (SWEDD).FindingsIn the population from PPMI, our initial model correctly distinguished patients with Parkinson's disease from controls at an area under the curve (AUC) of 0·923 (95% CI 0·900-0·946) with high sensitivity (0·834, 95% CI 0·711-0·883) and specificity (0·903, 95% CI 0·824-0·946) at its optimum AUC threshold (0·655). All Hosmer-Lemeshow simulations suggested that when parsed into random subgroups, the subgroup data matched that of the overall cohort. External validation showed good classification of Parkinson's disease, with AUCs of 0·894 (95% CI 0·867-0·921) in the PDBP cohort, 0·998 (0·992-1·000) in PARS, 0·955 (no 95% CI available) in 23andMe, 0·929 (0·896-0·962) in LABS-PD, and 0·939 (0·891-0·986) in the Penn-Udall cohort. Four of 17 SWEDD participants who our model classified as having Parkinson's disease converted to Parkinson's disease within 1 year, whereas only one of 38 SWEDD participants who were not classified as having Parkinson's disease underwent conversion (test of proportions, p=0·003).InterpretationOur model provides a potential new approach to distinguish participants with Parkinson's disease from controls. If the model can also identify individuals with prodromal or preclinical Parkinson's disease in prospective cohorts, it could facilitate identification of biomarkers and interventions.FundingNational Institute on Aging, National Institute of Neurological Disorders and Stroke, and the Michael J Fox Foundation.
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- 2015
35. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
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Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blauwendraat, Cornelis, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Chelban, Viorica, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Faghri, Faraz, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Iwaki, Hirotaka, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Krohn, Lynne, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Martínez Torres, Irene, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Nalls, Mike A, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizig, Mie, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Rouleau, Guy A, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Van Keuren-Jensen, Kendall, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., von Coelln, Rainer, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao, Vallerga, Costanza L, Heilbron, Karl, Chang, Diana, Tan, Manuela, Young, Emily, Pihlstrøm, Lasse, Leonard, Hampton, Botia, Juan A, Jankovic, Joseph, Shulman, Lisa M, Sutherland, Margaret, Tienari, Pentti, Andreassen, Ole A, Bangale, Tushar, Hinds, David A, Hardy, John A, Visscher, Peter M, and Graham, Robert R
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- 2019
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36. Recording a 12-lead electrocardiogram
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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37. Lumps and bumps
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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38. Peripheral neurological
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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39. Respiratory
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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40. Blood transfusion
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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41. Peak expiratory flow rate measurement
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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42. Shoulder and elbow
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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43. Otoscopy
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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44. Cannulation
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Mann, Ian, primary and Noyce, Alastair, additional
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- 2021
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45. Thyroid/neck
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Mann, Ian, primary and Noyce, Alastair, additional
- Published
- 2021
- Full Text
- View/download PDF
46. Arterial blood gas sampling
- Author
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Mann, Ian, primary and Noyce, Alastair, additional
- Published
- 2021
- Full Text
- View/download PDF
47. Venepuncture
- Author
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Mann, Ian, primary and Noyce, Alastair, additional
- Published
- 2021
- Full Text
- View/download PDF
48. Gait, arms, legs, spine
- Author
-
Mann, Ian, primary and Noyce, Alastair, additional
- Published
- 2021
- Full Text
- View/download PDF
49. Abdominal
- Author
-
Mann, Ian, primary and Noyce, Alastair, additional
- Published
- 2021
- Full Text
- View/download PDF
50. The Finalist’s Guide to Passing the OSCE
- Author
-
Mann, Ian, primary and Noyce, Alastair, additional
- Published
- 2021
- Full Text
- View/download PDF
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