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1. The 2022 symposium on dementia and brain aging in low‐ and middle‐income countries: Highlights on research, diagnosis, care, and impact

Author

Kalaria, Raj, Maestre, Gladys, Mahinrad, Simin, Acosta, Daisy M, Akinyemi, Rufus Olusola, Alladi, Suvarna, Allegri, Ricardo F, Arshad, Faheem, Babalola, David Oluwasayo, Baiyewu, Olusegun, Bak, Thomas H, Bellaj, Tarek, Brodie‐Mends, David K, Carrillo, Maria C, Celestin, Kaputu‐Kalala‐Malu, Damasceno, Albertino, de Silva, Ranil Karunamuni, de Silva, Rohan, Djibuti, Mamuka, Dreyer, Anna Jane, Ellajosyula, Ratnavalli, Farombi, Temitope H, Friedland, Robert P, Garza, Noe, Gbessemehlan, Antoine, Georgiou, Eliza Eleni‐Zacharoula, Govia, Ishtar, Grinberg, Lea T, Guerchet, Maëlenn, Gugssa, Seid Ali, Gumikiriza‐Onoria, Joy Louise, Hogervorst, Eef, Hornberger, Michael, Ibanez, Agustin, Ihara, Masafumi, Issac, Thomas Gregor, Jönsson, Linus, Karanja, Wambui M, Lee, Joseph H, Leroi, Iracema, Livingston, Gill, Manes, Facundo Francisco, Mbakile‐Mahlanza, Lingani, Miller, Bruce L, Musyimi, Christine Wayua, Mutiso, Victoria N, Nakasujja, Noeline, Ndetei, David M, Nightingale, Sam, Novotni, Gabriela, Nyamayaro, Primrose, Nyame, Solomon, Ogeng'o, Julius A, Ogunniyi, Adesola, de Oliveira, Maira Okada, Okubadejo, Njideka U, Orrell, Martin, Paddick, Stella‐Maria, Pericak‐Vance, Margaret A, Pirtosek, Zvezdan, Potocnik, Felix Claude Victor, Raman, Rema, Rizig, Mie, Rosselli, Mónica, Salokhiddinov, Marufjon, Satizabal, Claudia L, Sepulveda‐Falla, Diego, Seshadri, Sudha, Sexton, Claire E, Skoog, Ingmar, St George‐Hyslop, Peter H, Suemoto, Claudia Kimie, Thapa, Prekshy, Udeh‐Momoh, Chinedu Theresa, Valcour, Victor, Vance, Jeffery M, Varghese, Mathew, Vera, Jaime H, Walker, Richard W, Zetterberg, Henrik, Zewde, Yared Z, and Ismail, Ozama

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Brain Disorders, Dementia, Aging, Neurodegenerative, Prevention, Acquired Cognitive Impairment, Neurological, Good Health and Well Being, Humans, Developing Countries, Brain, Congresses as Topic, Biomedical Research, Alzheimer's disease, dementia, diversity, high‐income countries, low‐ and middle‐income countries, risk factors, vascular dementia, Geriatrics, Clinical sciences, Biological psychology
Abstract

Two of every three persons living with dementia reside in low- and middle-income countries (LMICs). The projected increase in global dementia rates is expected to affect LMICs disproportionately. However, the majority of global dementia care costs occur in high-income countries (HICs), with dementia research predominantly focusing on HICs. This imbalance necessitates LMIC-focused research to ensure that characterization of dementia accurately reflects the involvement and specificities of diverse populations. Development of effective preventive, diagnostic, and therapeutic approaches for dementia in LMICs requires targeted, personalized, and harmonized efforts. Our article represents timely discussions at the 2022 Symposium on Dementia and Brain Aging in LMICs that identified the foremost opportunities to advance dementia research, differential diagnosis, use of neuropsychometric tools, awareness, and treatment options. We highlight key topics discussed at the meeting and provide future recommendations to foster a more equitable landscape for dementia prevention, diagnosis, care, policy, and management in LMICs. HIGHLIGHTS: Two-thirds of persons with dementia live in LMICs, yet research and costs are skewed toward HICs. LMICs expect dementia prevalence to more than double, accompanied by socioeconomic disparities. The 2022 Symposium on Dementia in LMICs addressed advances in research, diagnosis, prevention, and policy. The Nairobi Declaration urges global action to enhance dementia outcomes in LMICs.

Published
2024

2. The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson’s disease

Author

William, Martina B., Hamed, Sharifa, Shalash, Ali, Khedr, Eman M., Yousef, Mohamed H., El-Jaafary, Shaimaa, Fawi, Gharib, Helmy, Asmaa, Hamid, Eman, Essam, Mohamed, Lee, Hamin, Jama, Alina, Koraym, Mohamed, Mahmoud, Doaa M., Elfarrash, Sara, Elsaid, Yasmin, Gabr, Asmaa S., Shebl, Nourhan, Abdelwahhab, Nesreen, Belal, Tamer M., Elsayed, Nehal A. B., El-Gamal, Mohamed, Elgamal, Shimaa, Ragab, Salma, Mekky, Jaidaa, Aly, Lobna, Nabhan, Samir, Ragab, Gaafar, Hussein, Mohamed A., Hegazy, Mohamed Tharwat, Houlden, Henry, Salama, Mohamed, and Rizig, Mie

Published
2024
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3. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

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

Published
2023
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4. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease

Author

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

Subjects
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.

Published
2019

5. APOE E4 is associated with impaired self-declared cognition but not disease risk or age of onset in Nigerians with Parkinson’s disease

Author

Okubadejo, Njideka U., Okunoye, Olaitan, Ojo, Oluwadamilola O., Arabambi, Babawale, Akinyemi, Rufus O., Osaigbovo, Godwin O., Abubakar, Sani A., Iwuozo, Emmanuel U., Wahab, Kolawole W., Agabi, Osigwe P., Agulanna, Uchechi, Imarhiagbe, Frank A., Abiodun, Oladunni V., Achoru, Charles O., Adebowale, Akintunde A., Adeniji, Olaleye, Akpekpe, John E., Ali, Mohammed W., Ani-Osheku, Ifeyinwa, Arigbodi, Ohwotemu, Balarabe, Salisu A., Bello, Abiodun H., Ekenze, Oluchi S., Erameh, Cyril O., Farombi, Temitope H., Fawale, Michael B., Komolafe, Morenikeji A., Nwani, Paul O., Nwazor, Ernest O., Nyandaiti, Yakub, Obehighe, Emmanuel E., Obiabo, Yahaya O., Odeniyi, Olanike A., Odiase, Francis E., Ojini, Francis I., Onwuegbuzie, Gerald A., Osemwegie, Nosakhare, Oshinaike, Olajumoke O., Otubogun, Folajimi M., Oyakhire, Shyngle I., Taiwo, Funlola T., Williams, Uduak E., Ozomma, Simon, Zubair, Yusuf, Hernandez, Dena, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Singleton, Andrew, Houlden, Henry, Hardy, John, and Rizig, Mie

Published
2022
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6. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Author

Skorvanek, Matej, Rektorova, Irena, Mandemakers, Wim, Wagner, Matias, Steinfeld, Robert, Orec, Laura, Han, Vladimir, Pavelekova, Petra, Lackova, Alexandra, Kulcsarova, Kristina, Ostrozovicova, Miriam, Gdovinova, Zuzana, Plecko, Barbara, Brunet, Theresa, Berutti, Riccardo, Kuipers, Demy J.S., Boumeester, Valerie, Havrankova, Petra, Tijssen, M.A.J., Kaiyrzhanov, Rauan, Rizig, Mie, Houlden, Henry, Winkelmann, Juliane, Bonifati, Vincenzo, Zech, Michael, and Jech, Robert

Published
2022
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7. p.L1795F LRRK2 variant is a common cause of Parkinson’s disease in Central Europe

Author

Ostrozovicova, Miriam, primary, Tamas, Gertrud, additional, Dušek, Petr, additional, Grofik, Milan, additional, Han, Vladimir, additional, Holly, Petr, additional, Jech, Robert, additional, Kalinova, Katarina, additional, Klivenyi, Peter, additional, Kovacs, Norbert, additional, Kulcsarova, Kristina, additional, Kurca, Egon, additional, Lackova, Alexandra, additional, Lee, Hamin, additional, Lewis, Patrick, additional, Magocova, Veronika, additional, Marekova, Maria, additional, Murphy, David, additional, Necpal, Jan, additional, Pinter, David, additional, Rabajdova, Miroslava, additional, Růžička, Evžen, additional, Serranova, Tereza, additional, Smilowska, Katarzyna, additional, Soos, Krisztina, additional, Straka, Igor, additional, Svorenova, Tatiana, additional, Valkovic, Peter, additional, Zarubova, Katerina, additional, Gdovinova, Zuzana, additional, Houlden, Henry, additional, Rizig, Mie, additional, and Skorvanek, Matei, additional

Published
2024
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9. An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan Africa

Author

Muthinja, Mendi J, primary, Guelngar, Carlos Othon, additional, Fall, Maouly, additional, Jama, Fatumah, additional, Shuja, Huda Aldeen, additional, Nambafu, Jamila, additional, Massi, Daniel Gams, additional, Ojo, Oluwadamilola O., additional, Okubadejo, Njideka U., additional, Taiwo, Funmilola Tolulope, additional, Diop, Alassane Mamadou, additional, de Chacus, Coudjou J. D. G., additional, Cissé, Fodé Abass, additional, Cissé, Amara, additional, Hooker, Juzar, additional, Sokhi, Dilraj, additional, Houlden, Henry, additional, and Rizig, Mie, additional

Published
2024
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11. Metabolomic profiling reveals altered phenylalanine metabolism in Parkinson’s disease in an Egyptian cohort

Author

Shebl, Nourhan, primary, El-Jaafary, Shaimaa, additional, Saeed, Ayman A., additional, Elkafrawy, Passent, additional, El-Sayed, Amr, additional, Shamma, Samir, additional, Elnemr, Rasha, additional, Mekky, Jaidaa, additional, Mohamed, Lobna A., additional, Kittaneh, Omar, additional, El-Fawal, Hassan, additional, Rizig, Mie, additional, and Salama, Mohamed, additional

Published
2024
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14. Central European Group on Genetics of Movement Disorders

Author

Ostrozovicova, Miriam, primary, Dusek, Petr, additional, Grofik, Milan, additional, Han, Vladimir, additional, Holly, Petr, additional, Jech, Robert, additional, Klivenyi, Peter, additional, Kovacs, Norbert, additional, Kulcsarova, Kristina, additional, Kurca, Egon, additional, Lackova, Alexandra, additional, Magocova, Veronika, additional, Necpal, Jan, additional, Pinter, David, additional, Ruzicka, Evzen, additional, Serranova, Tereza, additional, Smilowska, Katarzyna, additional, Straka, Igor, additional, Svorenova, Tatiana, additional, Tamas, Gertrud, additional, Valkovic, Peter, additional, Zarubova, Katerina, additional, Houlden, Henry, additional, Rizig, Mie, additional, and Skorvanek, Matej, additional

Published
2023
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15. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Author

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

Published
2019
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16. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

Rizig, Mie, primary, Bandres-Ciga, Sara, additional, Makarious, Mary B, additional, Ojo, Oluwadamilola Omolara, additional, Crea, Peter Wild, additional, Abiodun, Oladunni Victoria, additional, Levine, Kristin S, additional, Abubakar, Sani Atta, additional, Achoru, Charles Obiora, additional, Vitale, Dan, additional, Adeniji, Olaleye Akinmola, additional, Agabi, Osigwe Paul, additional, Koretsky, Mathew J, additional, Agulanna, Uchechi, additional, Hall, Deborah A, additional, Akinyemi, Rufus Olusola, additional, Xie, Tao, additional, Ali, Mohammed Wulgo, additional, Shamim, Ejaz A, additional, Ani-Osheku, Ifeyinwa, additional, Padmanaban, Mahesh, additional, Arigbodi, Ohwotemu Michael, additional, Standaert, David G, additional, Bello, Abiodun Hamzat, additional, Dean, Marissa N, additional, Erameh, Cyril Oshomah, additional, Elsayed, Inas, additional, Farombi, Temitope Hannah, additional, Okunoye, Olaitan, additional, Fawale, Michael Bimbola, additional, Billingsley, Kimberley J, additional, Imarhiagbe, Frank Aiwansoba, additional, Jerez, Pilar Alvarez, additional, Iwuozo, Emmanuel Uzodinma, additional, Baker, Breeana, additional, Komolafe, Morenikeji Adeyoyin, additional, Malik, Laksh, additional, Nwani, Paul Osemeke, additional, Daida, Kensuke, additional, Nwazor, Ernest Okwundu, additional, Miano-Burkhardt, Abigail, additional, Nyandaiti, Yakub Wilberforce, additional, Fang, Zih-Hua, additional, Obiabo, Yahaya Olugbo, additional, Kluss, Jillian H, additional, Odeniyi, Olanike Adedoyin, additional, Hernandez, Dena G, additional, Odiase, Francis Ehidiamen, additional, Tayebi, Nahid, additional, Ojini, Francis Ibe, additional, Sidranksy, Ellen, additional, Onwuegbuzie, Gerald Awele, additional, D'Souza, Andrea M, additional, Osaigbovo, Godwin Osawaru, additional, Berhe, Bahafta, additional, Osemwegie, Nosakhare, additional, Reed, Xylena, additional, Oshinaike, Olajumoke Olufemi, additional, Leonard, Hampton L, additional, Otubogun, Folajimi Morenikeji, additional, Alvarado, Chelsea X, additional, Oyakhire, Shyngle Imiewan, additional, Ozomma, Simon Izuchukwu, additional, Samuel, Sarah Chabiri, additional, Taiwo, Funmilola Tolulope, additional, Wahab, Kolawole Wasiu, additional, Zubair, Yusuf Agboola, additional, Iwaki, Hirotaka, additional, Kim, Jonggeol Jeffrey, additional, Morris, Huw R, additional, Hardy, John, additional, Nalls, Mike A, additional, Heilbron, Karl, additional, Norcliffe-Kaufmann, Lucy, additional, Blauwendraat, Cornelis, additional, Houlden, Henry, additional, Singleton, Andrew, additional, Okubadejo, Njideka Ulunma, additional, Okubadejo, Njideka, additional, Ojo, Oluwadamilola, additional, Abiodun, Oladunni, additional, Achoru, Charles, additional, Agabi, Osigwe, additional, Akinyemi, Rufus, additional, Ali, Mohammed, additional, Arigbodi, Ohwotemu, additional, Bello, Abiodun, additional, Erameh, Cyril, additional, Farombi, Temitope, additional, Fawale, Michael, additional, Imarhiagbe, Frank, additional, Iwuozo, Emmanuel, additional, Komolafe, Morenikeji, additional, Nwani, Paul, additional, Nwazor, Ernest, additional, Nyandaiti, Yakub, additional, Obiabo, Yahaya, additional, Odeniyi, Olanike, additional, Odiase, Francis, additional, Ojini, Francis, additional, Onwuegbuzie, Gerald, additional, Osaigbovo, Godwin, additional, Oshinaike, Olajumoke, additional, Otubogun, Folajimi, additional, Oyakhire, Shyngle, additional, Ozomma, Simon, additional, Samuel, Sarah, additional, Taiwo, Funmilola, additional, Wahab, Kolawole, additional, Zubair, Yusuf, additional, Gams Massi, Daniel, additional, Gueumekane Bila lamou, Eric, additional, Njamnshi Nfor, Leonard, additional, Magnerou, Mélanie Annick, additional, Fogang Fogoum, Yannick, additional, Shalash, Ali, additional, El-FawaI, Hassan, additional, Khedr, Eman, additional, Fawi, Gharib, additional, A. Eltantawi, Mohamed, additional, Salama, Mohamed, additional, El-Jaafary, Shaimaa, additional, Hamed, Sharifa, additional, Tafesse Mengesha, Abenet, additional, Alemayehu Ayele, Biniyam, additional, Melka Oda, Dereje, additional, Zenebe Zewde, Yared, additional, Debebe Gelan, Yohanesse, additional, AkpaIu, Albert, additional, Charway-Felli, Augustina, additional, Stephen Sarfo, Fred, additional, Adjei, Patrick, additional, Obese, Vida, additional, Bocoum, Abdoulaye, additional, Koita, Abdou, additional, Oumar Guinto, Cheick, additional, Coulibaly, Toumany, additional, Maiga, Youssoufa, additional, Kone, Zaynab, additional, Bell, Abiodun, additional, Adebowale, Akintunde A., additional, Akpekpe, John, additional, lyagba, Alagoma, additional, Wulgo, Ali Mohammed, additional, Arabambi, Babawale, additional, Agu, Christian, additional, Dike, Franklin, additional, Ishola, Ismail, additional, Abiodun, Kehinde, additional, Ekenze, Oluchi, additional, Agabi Osigwe, Paul, additional, Balarabe, Salisu, additional, Abubakar, Sani, additional, Williams, Uduak, additional, Fall, Maouly, additional, Mamadou Diop, Alassane, additional, Hilaire Dominique, Ewodo Touna, additional, Mochan, Andre, additional, Modi, Girish, additional, Dindayal, Saiesha, additional, Ali Awadelkareem, Eman, additional, Dahawi, Maha, additional, Awadelkareem, Mosab Ali, additional, Misbah, Sarah, additional, Mushengez, Brighton, additional, Kimambo, Henrika, additional, Msango, Leonard, additional, Adebayo, Philip, additional, OKeng, Kigocha, additional, Diekker, Marieke, additional, URassa, Sarah, additional, Gouider, Riadh, additional, Ben Djebara, Mouna, additional, Gargouri, Amina, additional, Kacem, Imen, additional, Nasri, Amina, additional, Mrabet, Saloua, additional, Sghaier, Ikram, additional, Mkada, Imen, additional, Atadzhanov, Masharip, additional, Chishimba, Lorraine, additional, Rizig, Mie, additional, Jama, Fatumah, additional, Nalls, Mike, additional, Shamim, Ejaz, additional, Jonas, Cabell, additional, Williamson, Jared, additional, Hall, Deborah A., additional, Rosenbaum, Marc, additional, Davis, Staci, additional, Dean, Marissa, additional, Cromer, Candace, additional, Smith, Jenna, additional, Ruffrage, Lauren, additional, Richardson, Joseph, additional, Sipma, Rebeka, additional, Padmanaban, Manesh, additional, Warren, Natalie, additional, Mercado, Tomas, additional, Disbrow, Elizabeth, additional, Chauppeta, Brian, additional, Thomas-Dean, Fermine, additional, Toms, Jamie, additional, Lofton, Katelyn, additional, Rawls, Ashley, additional, Rizer, Kyle, additional, Black, Nieci, additional, Solle, Justin, additional, O'Grady, Alyssa, additional, Sherer, Todd, additional, Fiske, Brian, additional, Başak, A. Nazlı, additional, Tan, Ai Huey, additional, Noyce, Alastair, additional, Akpalu, Albert, additional, Espay, Alberto, additional, Martínez-Carrasco, Alejandro, additional, Medina, Alex, additional, Zimprich, Alexander, additional, Brice, Alexis, additional, Karimova, Altynay, additional, Hernandez, Alvaro, additional, Illarionova, Anastasia, additional, Quattrone, Andrea, additional, Singleton, Andrew B, additional, Sobering, Andrew K., additional, Vinuela, Angel, additional, Sanyaolu, Arinola, additional, Schumacher-Schuh, Artur F., additional, Kishore, Asha, additional, Ahmad-Annuar, Azlina, additional, Al Mubarak, Bashayer, additional, Tang, Beisha, additional, Pizarro Galleguillos, Benjamin, additional, Jeon, Beomseok, additional, Siddiqi, Bernadette, additional, Casey, Bradford, additional, Mollenhauer, Brit, additional, Carroll, Camille, additional, Rieder, Carlos, additional, Pantazis, Caroline B., additional, Comart, Charisse, additional, Lin, Chin-Hsien, additional, Klein, Christine, additional, Bale, Claire, additional, Shepherd, Claire E, additional, Wegel, Claire, additional, Martinez-Ramirez, Daniel, additional, Hall, Deborah, additional, Hernandez, Dena, additional, KP, Divya, additional, Nguyen, Duan, additional, Fon, Edward A., additional, Dadiotis, Efthymios, additional, Riley, Ekemini, additional, Iakovenko, Elena, additional, Stafford, Ellie, additional, Gatto, Emilia M, additional, Valente, Enza Maria, additional, Vollstedt, Eva-Juliane, additional, Faghri, Faraz, additional, Genc, Gencer, additional, Xiromerisiou, Georgia, additional, Hadjigorgiou, Georgios, additional, Hiu-Fai Chan, Germaine, additional, Arboleda, Gonzalo, additional, Kaishibayeva, Gulnaz, additional, Höglinger, Günter, additional, Leonard, Hampton, additional, Madoev, Harutyun, additional, Chen, Honglei, additional, Wu, Hsiu-Chuan, additional, Shang, Huifang, additional, F. Mata, Ignacio, additional, Keller Sarmiento, Ignacio Juan, additional, Dagklis, Ioannis, additional, Tarnanas, Ioannis, additional, Aasly, Jan O., additional, Hoenicka, Janet, additional, Corvol, Jean-Christophe, additional, Foo, Jia Nee, additional, Guo, Jifeng, additional, Junker, Johanna, additional, Carr, Jonathan, additional, Kim, Jonggeol Jeff, additional, Orozco, Jorge, additional, Jankovic, Joseph, additional, Shulman, Joshua, additional, Hunter, Julie, additional, Solle, Justin C., additional, Murphy, Kaileigh, additional, Nuytemans, Karen, additional, Kieburtz, Karl, additional, Lohmann, Katja, additional, Marek, Kenneth, additional, Mok, Kin Ying, additional, Kumar, Kishore, additional, Levine, Kristin, additional, Chahine, Lana M., additional, Lange, Lara M., additional, Pihlstrøm, Lasse, additional, Screven, Laurel, additional, Stefanis, Leonidas, additional, Shulman, Lisa, additional, Marsili, Luca, additional, Parnetti, Lucilla, additional, Kuhl, Maggie, additional, Funayama, Manabu, additional, Sharma, Manu, additional, Tan, Manuela, additional, Kauffman, Marcelo, additional, Miranda, Marcelo, additional, Bustamante, Maria Leonor, additional, Stamelou, Maria, additional, Periñan Tocino, Maria Teresa, additional, Cornejo-Olivas, Mario, additional, Jimenez del Rio, Marlene, additional, Koretsky, Mathew, additional, Rodriguez-Violante, Mayela, additional, Ellis, Melina, additional, Avenali, Micol, additional, Rentería, Miguel E., additional, Inca-Martines, Miguel z, additional, Nalls, Mike A., additional, Ibrahim Norlinah, Mohamed, additional, Umair, Muhammad, additional, Ip, Nancy, additional, Louie, Naomi, additional, Cheung, Nelson Yuk-Fai, additional, Mencacci, Niccolò Emanuele, additional, Wood, Nicholas, additional, Williams, Nigel, additional, Hattori, Nobutaka, additional, Abdul Murad, Nor Azian, additional, Ibrahim, Norlinah Mohamed, additional, Monchi, Oury, additional, Öztop Çakmak, Özgür, additional, Öztop Çakmak, Patricio Öztop Çakmak, additional, Lewis, Patrick Alfryn, additional, Pastor, Pau, additional, Reyes-Pérez, Paula, additional, Saffie Awad, Paula, additional, Chana, Pedro, additional, Chan, Phillip, additional, Kung, Pin-Jui, additional, Chan, Piu, additional, Pal, Pramod, additional, Lingappa Kukkle, Prashanth, additional, Ojha, Rajeev, additional, Kaiyrzhanov, Rauan, additional, Krüger, Rejko, additional, Amouri, Rim, additional, Weil, Rimona, additional, Rajan, Roopa, additional, Alcalay, Roy, additional, Wu, Ruey-Meei, additional, Borgohain, Rupam, additional, Sassi, Samia Ben, additional, Khachatryan, Samson, additional, El-Sadig, Sarah, additional, Wu, Serena, additional, Groppa, Sergio, additional, Azmin, Shahrul, additional, Lim, Shen-Yang, additional, Ur-Rehman, Shoaib, additional, Ertan, Sibel, additional, Stott, Simon, additional, Jasaitye, Simona, additional, Chowdhury, Sohini, additional, Dumanis, Sonya, additional, Bardien, Soraya, additional, Lubbe, Steven, additional, Koks, Sulev, additional, Dey, Sumit, additional, Foroud, Tatiana, additional, Fon, Ted, additional, Beach, Thomas, additional, Gasser, Thomas, additional, Anderson, Tim, additional, Nguyen, Toan, additional, Schirinzi, Tommaso, additional, Shiraishi, Tomotaka, additional, Pitcher, Toni, additional, Tumas, Vitor, additional, Mohamed, Wael, additional, Kamel, Walaa A., additional, Luo, Wei, additional, Zhou, Xiaopu, additional, Zewde, Yared Z., additional, Song, Yeajin, additional, Wen, Yi, additional, Wu, Yihru, additional, Joong Kim, Yun, additional, and Tavadyan, Zaruhi, additional

Published
2023
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17. GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson’s Disease in Nigerians.

Author

Ojo, Oluwadamilola Omolara, Bandres-Ciga, Sara, Makarious, Mary B., Crea, Peter Wild, Hernandez, Dena G., Houlden, Henry, Rizig, Mie, Singleton, Andrew B., Noyce, Alastair J., Nalls, Mike A., Blauwendraat, Cornelis, and Okubadejo, Njideka Ulunma

Abstract

Background: Rapid eye movement (REM) sleep behavior disorder (RBD) is an early feature of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). Damaging coding variants in Glucocerebrosidase (GBA1) are a genetic risk factor for RBD. Recently, a population-specific non-coding risk variant (rs3115534) was found to be associated with PD risk and earlier onset in individuals of African ancestry. Objectives: We aimed to investigate whether the GBA1 rs3115534 PD risk variant is associated with RBD in persons with PD. Methods: We studied 709 persons with PD and 776 neurologically healthy controls from Nigeria. All DNA samples were genotyped and imputed, and the GBA1 rs3115534 risk variant was extracted. The RBD screening questionnaire (RBDSQ) was used to assess symptoms of possible RBD. Results: RBD was present in 200 PD (28.2%) and 51 (6.6%) controls. We identified that the non-coding GBA1 rs3115534 risk variant is associated with possible RBD in individuals of Nigerian origin (β, 0.3640; standard error [SE], 0.103, P = 4.093e(04), as well as in all samples after adjusting for PD status (β, 0.2542; SE, 0.108; P = 0.019) suggesting that although noncoding, this variant may have the same downstream consequences as GBA1 coding variants. Conclusions: Our results indicate that the non-coding GBA1 rs3115534 risk variant is associated with an increasing number of RBD symptoms in persons with PD of Nigerian origin. Further research is needed to assess if this variant is also associated with polysomnography-defined RBD and with RBD symptoms in DLB. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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18. The non-codingGBA1rs3115534 variant is associated with REM sleep behavior disorder in Nigerians

Author

Ojo, Oluwadamilola O., primary, Bandres-Ciga, Sara, additional, Makarious, Mary B., additional, Crea, Peter Wild, additional, Hernandez, Dena G., additional, Houlden, Henry, additional, Rizig, Mie, additional, Singleton, Andrew B., additional, Noyce, Alastair J., additional, Nalls, Mike A., additional, Blauwendraat, Cornelis, additional, and Okubadejo, Njideka U., additional

Published
2023
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20. Detection of prodromal Parkinson's disease using targeted urine proteomics and machine learning

Author

Hallqvist, Jenny, primary, Schreglmann, Sebastian R, additional, Kulcsarova, Kristina, additional, Skorvanek, Matej, additional, Feketeova, Eva, additional, Rizig, Mie R, additional, Mollenhauer, Brit, additional, Turano, Paola, additional, Francheschi, Claudio, additional, Wood, Nicholas, additional, Bhatia, Kailash P, additional, and Mills, Kevin, additional

Published
2023
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21. MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset

Author

Okunoye, Olaitan, primary, Ojo, Oluwadamilola O., additional, Abiodun, Oladunni, additional, Abubakar, Sani, additional, Achoru, Charles, additional, Adeniji, Olaleye, additional, Agabi, Osigwe, additional, Agulanna, Uchechi, additional, Akinyemi, Rufus, additional, Ali, Mohammed, additional, Ani-Osheku, Ifeyinwa, additional, Arigbodi, Ohwotemu, additional, Bello, Abiodun, additional, Erameh, Cyril, additional, Farombi, Temitope, additional, Fawale, Michael, additional, Imarhiagbe, Frank, additional, Iwuozo, Emmanuel, additional, Komolafe, Morenikeji, additional, Nwani, Paul, additional, Nwazor, Ernest, additional, Nyandaiti, Yakub, additional, Obiabo, Yahaya, additional, Odeniyi, Olanike, additional, Odiase, Francis, additional, Ojini, Francis, additional, Onwuegbuzie, Gerald, additional, Osaigbovo, Godwin, additional, Osemwegie, Nosakhare, additional, Oshinaike, Olajumoke, additional, Otubogun, Folajimi, additional, Oyakhire, Shyngle, additional, Ozomma, Simon, additional, Samuel, Sarah, additional, Taiwo, Funmilola, additional, Wahab, Kolawole, additional, Zubair, Yusuf, additional, Hernandez, Dena, additional, Bandres-Ciga, Sara, additional, Blauwendraat, Cornelis, additional, Singleton, Andrew, additional, Houlden, Henry, additional, Hardy, John, additional, Rizig, Mie, additional, and Okubadejo, Njideka, additional

Published
2023
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22. The State of Play of Parkinson’s Disease in Africa: A Systematic Review and Point of View

Author

Okunoye, Olaitan, primary, Zewde, Yared Z., additional, Azar, Jihan, additional, Ayele, Biniyam A., additional, Dindayal, Saiesha, additional, Moustafa, Ahmed, additional, Abdulkarim, Mosab, additional, Taiwo, Funmilola T., additional, Gams Massi, Daniel, additional, Salama, Mohamed, additional, Mengesha, Abenet T., additional, Gelan, Yohannes D., additional, Oda, Dereje M., additional, Kelemu, Fikru T., additional, Achoru, Charles, additional, Obese, Vida, additional, Kone, Zeinab, additional, Cham, Momodou, additional, Fall, Maouly, additional, Bocoum, Abdoulaye, additional, Sakadi, Foksouna, additional, Adebayo, Philip, additional, Lamou, Eric Guemekane Bila, additional, Chishimba, Lorraine, additional, Chaudhry, Aiysha, additional, Shalash, Ali, additional, Hamid, Eman, additional, Watila, Musa, additional, Thomas, Omotola, additional, Ojo, Oluwadamilola, additional, Okubadejo, Njideka U., additional, and Rizig, Mie, additional

Published
2023
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23. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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26. Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease

Author

Brown, Emmeline E., Blauwendraat, Cornelis, Trinh, Joanne, Rizig, Mie, Nalls, Mike A., Leveille, Etienne, Ruskey, Jennifer A., Jonvik, Hallgeir, Tan, Manuela M.X., Bandres-Ciga, Sara, Hassin-Baer, Sharon, Brockmann, Kathrin, Infante, Jon, Tolosa, Eduardo, Ezquerra, Mario, Ben Romdhan, Sawssan, Benmahdjoub, Mustapha, Arezki, Mohamed, Mhiri, Chokri, Hardy, John, Singleton, Andrew B., Alcalay, Roy N., Gasser, Thomas, Grosset, Donald G., Williams, Nigel M., Pittman, Alan, Gan-Or, Ziv, Fernandez-Santiago, Ruben, Brice, Alexis, Lesage, Suzanne, Farrer, Matthew, Wood, Nicholas, and Morris, Huw R.

Published
2021
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27. Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson’s Disease in African and African Admixed Populations

Author

Rizig, Mie, Bandres-Ciga, Sara, Makarious, Mary B, Ojo, Oluwadamilola, Crea, Peter Wild, Abiodun, Oladunni, Levine, Kristin S, Abubakar, Sani, Achoru, Charles, Vitale, Dan, Adeniji, Olaleye, Agabi, Osigwe, Koretsky, Mathew J, Agulanna, Uchechi, Hall, Deborah A., Akinyemi, Rufus, Xie, Tao, Ali, Mohammed, Shamim, Ejaz A., Ani-Osheku, Ifeyinwa, Padmanaban, Mahesh, Arigbodi, Owotemu, Standaert, David G, Bello, Abiodun, Dean, Marissa, Erameh, Cyril, Elsayed, Inas, Farombi, Temitope, Okunoye, Olaitan, Fawale, Michael, Billingsley, Kimberley J, Imarhiagbe, Frank, Jerez, Pilar Alvarez, Iwuozo, Emmanuel, Baker, Breeana, Komolafe, Morenikeji, Malik, Laksh, Nwani, Paul, Daida, Kensuke, Nwazor, Ernest, Miano-Burkhardt, Abigail, Nyandaiti, Yakub, Fang, Zih-Hua, Obiabo, Yahaya, Kluss, Jillian H., Odeniyi, Olanike, Hernandez, Dena, Odiase, Francis, Tayebi, Nahid, Ojini, Francis, Sidranksy, Ellen, Onwuegbuzie, Gerald, D’Souza, Andrea M., Osaigbovo, Godwin, Berhe, Bahafta, Osemwegie, Nosakhare, Reed, Xylena, Oshinaike, Olajumoke, Leonard, Hampton, Otubogun, Folajimi, Alvarado, Chelsea X, Oyakhire, Shyngle, Ozomma, Simon, Samuel, Sarah, Taiwo, Funmilola, Wahab, Kolawole, Zubair, Yusuf, Iwaki, Hirotaka, Kim, Jonggeol Jeffrey, Morris, Huw R, Hardy, John, Nalls, Mike, Heilbron, Karl, Norcliffe-Kaufmann, Lucy, Blauwendraat, Cornelis, Houlden, Henry, Singleton, Andrew, and Okubadejo, Njideka

Subjects
Article
Abstract

BACKGROUND: Understanding the genetic mechanisms underlying diseases in ancestrally diverse populations is a critical step towards the realization of the global application of precision medicine. The African and African admixed populations enable mapping of complex traits given their greater levels of genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. METHODS: Here we perform a comprehensive genome-wide assessment of Parkinson’s disease (PD) in 197,918 individuals (1,488 cases; 196,430 controls) of African and African admixed ancestry, characterizing population-specific risk, differential haplotype structure and admixture, coding and structural genetic variation and polygenic risk profiling. FINDINGS: We identified a novel common risk factor for PD and age at onset at the GBA1 locus (risk, rs3115534-G; OR=1.58, 95% CI = 1.37 – 1.80, P=2.397E-14; age at onset, BETA =−2.004, SE =0.57, P = 0.0005), that was found to be rare in non-African/African admixed populations. Downstream short- and long-read whole genome sequencing analyses did not reveal any coding or structural variant underlying the GWAS signal. However, we identified that this signal mediates PD risk via expression quantitative trait locus (eQTL) mechanisms. While previously identified GBA1 associated disease risk variants are coding mutations, here we suggest a novel functional mechanism consistent with a trend in decreasing glucocerebrosidase activity levels. Given the high population frequency of the underlying signal and the phenotypic characteristics of the homozygous carriers, we hypothesize that this variant may not cause Gaucher disease. Additionally, the prevalence of Gaucher’s disease in Africa is low. INTERPRETATION: The present study identifies a novel African-ancestry genetic risk factor in GBA1 as a major mechanistic basis of PD in the African and African admixed populations. This striking result contrasts to previous work in Northern European populations, both in terms of mechanism and attributable risk. This finding highlights the importance of understanding population-specific genetic risk in complex diseases, a particularly crucial point as the field moves toward precision medicine in PD clinical trials and while recognizing the need for equitable inclusion of ancestrally diverse groups in such trials. Given the distinctive genetics of these underrepresented populations, their inclusion represents a valuable step towards insights into novel genetic determinants underlying PD etiology. This opens new avenues towards RNA-based and other therapeutic strategies aimed at reducing lifetime risk.

Published
2023

28. The Nairobi Declaration—Reducing the burden of dementia in low‐ and middle‐income countries (LMICs): Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs

Author

Maestre, Gladys, Carrillo, Maria, Kalaria, Raj, Acosta, Daisy, Adams, Larry, Adoukonou, Thierry, Akinwande, Kazeem, Akinyemi, Joshua, Akinyemi, Rufus, Akpa, Onoja, Alladi, Suvarna, Allegri, Ricardo, Arizaga, Raul, Arshad, Faheem, Arulogun, Oyedunni, Babalola, David, Baiyewu, Olusegun, Bak, Thomas, Bellaj, Tarek, Boshe, Judith, Brayne, Carol, Brodie‐mends, David, Brown, Richard, Cahn, Jennifer, Cyrille, Nkouonlack, Damasceno, Albertino, de Silva, Ranil, de Silva, Rohan, Djibuti, Mamuka, Dreyer, Anna, Ellajosyula, Ratnavalli, Farombi, Temitope, Fongang, Bernard, Forner, Stefania, Friedland, Rob, Garza, Noe, Gbessemehlan, Antoine, Gouider, Riadh, Govia, Ishtar, Grinberg, Lea, Guerchet, Maëlenn, Gugssa, Seid, Gumikiriza‐onoria, Joy, Gustafson, Deborah, Hogervorst, Eef, Hornberger, Michael, Ibanez, Agustin, Ihara, Masafumi, Ismail, Ozama, Issac, Thomas, Jönsson, Linus, Kaputu, Celestin, Karanja, Wambui, Karungi, Jackline, Tshala‐katumbay, Desire, Kunkle, Brian, Lee, Joseph, Leroi, Iracema, Lewis, Raphaella, Livingston, Gill, Lopera, Francisco, Lwere, Kamada, Manes, Facundo, Mbakile‐mahlanza, Lingani, Mena, Pedro, Miller, Bruce, Millogo, Athanase, Mohamed, Abdul, Musyimi, Christine, Mutiso, Victoria, Nakasujja, Noeline, Ndetei, David, Nightingale, Sam, Njamnshi, Alfred, Novotni, Gabriela, Nyamayaro, Primrose, Nyame, Solomon, Ogeng'O, Julius, Ogunniyi, Adesola, Okada de Oliveira, Maira, Okubadejo, Njideka, Orrell, Martin, Orunmuyi, Akintunde, Owolabi, Mayowa, Paddick, Stella, a Pericak‐vance, Margaret, Pirtosek, Zvezdan, Potocnik, Felix, Preston, Bill, Raman, Rema, Ranchod, Kirti, Rizig, Mie, Rosselli, Monica, Deepa, Roy, Roy, Upal, Salokhiddinov, Marufjon, Sano, Mary, Sarfo, Fred, Satizabal, Claudia, Sepulveda‐falla, Diego, Seshadri, Sudha, Sexton, Claire, Skoog, Ingmar, St George‐hyslop, Peter, Suemoto, Claudia, Tanner, Jeremy, Thapa, Prekshya, Toure, Kamadore, Ucheagwu, Valentine, Udeh‐momoh, Chinedu, Valcour, Victor, Vance, Jeffery, Varghese, Mathew, Vera, Jaime, Walker, Richard, Weidner, Wendy, Sebastian, Walsh, Whitehead Gay, Patrice, Zetterberg, Henrik, Zewde, Yared, Alzheimer's Association, Epidémiologie des Maladies Chroniques en zone tropicale (EpiMaCT), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-OmégaHealth (ΩHealth), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), University of Ibadan, National Institute of Mental Health and Neurosciences [Bangalore, Inde] (NIMHANS ), Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia [Buenos Aires] (FLENI), FLENI, University College Hospital [Ibadan, Nigeria], University of Edinburgh, Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), University of Cambridge [UK] (CAM), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Eduardo Mondlane University, and Universität Bielefeld

Subjects
Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Geriatrics and Gerontology
Published
2023
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31. An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different tribes in 6 sub-Saharan African countries

Author

Muthinja, Mendi J, primary, Guelngar, Carlos Othon, additional, Fall, Maouly, additional, Jama, Fatumah, additional, Shuja, Huda Aldeen, additional, Nambafu, Jamila, additional, Bocoum, Abdoulaye, additional, Massi, Daniel Gams, additional, Ojo, Oluwadamilola O., additional, Okubadejo, Njideka U., additional, Taiwo, Funmilola Tolulope, additional, Diop, Alassane Mamadou, additional, De Chacus, Coudjou J.D.G., additional, Cissé, Fodé Abass, additional, Cissé, Amara, additional, Hooker, Juzar, additional, Sokhi, Dilraj, additional, Houlden, Henry, additional, and Rizig, Mie, additional

Published
2022
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32. APOE E4 is associated with cognitive decline but not with disease risk or age of onset in Nigerians with Parkinson’s disease

Author

Okubadejo, Njideka, primary, Okunoye, Olaitan, additional, Ojo, Oluwadamilola, additional, Arabambi, Babawale, additional, Akinyemi, Rufus, additional, Osaigbovo, Godwin, additional, Abubakar, Sani, additional, Iwuozo, Emmanuel, additional, Wahab, Kolawole, additional, Agabi, Osigwe, additional, Agulanna, Uchechi, additional, Imarhiagbe, Frank, additional, Abiodun, Oladunni, additional, Achoru, Charles, additional, Adebowale, Akintunde, additional, Adeniji, Olaleye, additional, Akpekpe, John, additional, Alli, Mohammed, additional, Ani-Osheku, Ifeyinwa, additional, Arigbodi, Ohwotemu, additional, Balarabe, Salisu, additional, Bello, Abiodun, additional, Ekenze, Oluchi, additional, Erameh, Cyril, additional, Farombi, Temitope, additional, Fawale, Michael, additional, Komolafe, Morenikeji, additional, Nwani, Paul, additional, Nwazor, Ernest, additional, Nyandaiti, Yakub, additional, Obehighe, Emmanuel, additional, Obiabo, Yahaya, additional, Odeniyi, Olanike, additional, Odiase, Francis, additional, Ojini, Francis, additional, Onwuegbuzie, Gerald, additional, Osemwegie, Nosakhare, additional, Oshinaike, Olajumoke, additional, Otubogun, Folajimi, additional, Oyakhire, Shyngle, additional, Taiwo, Funlola, additional, Williams, Uduak, additional, Ozomma, Simon, additional, Zubair, Yusuf, additional, Curtis, David, additional, Hernandez, Dena, additional, Bandrés-Ciga, Sara, additional, Blauwendraat, Cornelis, additional, Singleton, Andrew, additional, Houlden, Henry, additional, Hardy, John, additional, and Rizig, Mie, additional

Published
2022
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33. Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions

Author

Schumacher-Schuh, Artur Francisco, Bieger, Andrei, Okunoye, Olaitan, Mok, Kin Ying Boniface, Lim, Shen-Yang, Bardien, Soraya, Ahmad-Annuar, Azlina, Santos-Lobato, Bruno Lopes, Strelow, Matheus Zschornack, Salama, Mohamed, Rao, Shilpa C., Zewde, Yared Zenebe, Dindayal, Saiesha, Azar, Jihan, Prashanth, Lingappa Kukkle, Rajan, Roopa, Noyce, Alastair J., Okubadejo, Njideka, Rizig, Mie, Lesage, Suzanne, Mata, Ignacio Fernandez, Global Parkinson's Genetics Program, Schumacher-Schuh, Artur Francisco, Bieger, Andrei, Okunoye, Olaitan, Mok, Kin Ying Boniface, Lim, Shen-Yang, Bardien, Soraya, Ahmad-Annuar, Azlina, Santos-Lobato, Bruno Lopes, Strelow, Matheus Zschornack, Salama, Mohamed, Rao, Shilpa C., Zewde, Yared Zenebe, Dindayal, Saiesha, Azar, Jihan, Prashanth, Lingappa Kukkle, Rajan, Roopa, Noyce, Alastair J., Okubadejo, Njideka, Rizig, Mie, Lesage, Suzanne, Mata, Ignacio Fernandez, and Global Parkinson's Genetics Program

Abstract

Background Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. Objective This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. Methods We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information. Results We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs. Conclusion This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. (c) 2022 International Parkinson and Movement Disorder Society.

Published
2022

35. Prevalence of Fabry Disease among Patients with Parkinson’s Disease

Author

Lackova, Alexandra, primary, Beetz, Christian, additional, Oppermann, Sebastian, additional, Bauer, Peter, additional, Pavelekova, Petra, additional, Lorincova, Tatiana, additional, Ostrozovicova, Miriam, additional, Kulcsarova, Kristina, additional, Cobejova, Jana, additional, Cobej, Martin, additional, Levicka, Petra, additional, Liesenerova, Simona, additional, Sendekova, Daniela, additional, Sukovska, Viktoria, additional, Gdovinova, Zuzana, additional, Han, Vladimir, additional, Rizig, Mie, additional, Houlden, Henry, additional, and Skorvanek, Matej, additional

Published
2022
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36. A Cross‐Sectional Comprehensive Assessment of the Profile and Burden of Non‐motor Symptoms in Relation to Motor Phenotype in the Nigeria Parkinson Disease Registry Cohort

Author

Ojo, Oluwadamilola O., primary, Wahab, Kolawole W., additional, Bello, Abiodun H., additional, Abubakar, Sani A., additional, Ekeh, Bertha C., additional, Otubogun, Folajimi M., additional, Iwuozo, Emmanuel U., additional, Farombi, Temitope H., additional, Adeniji, Olaleye, additional, Ojini, Francis I., additional, Imarhiagbe, Frank A., additional, Nyandaiti, Yakub, additional, Komolafe, Morenikeji A., additional, Fawale, Michael B., additional, Onwuegbuzie, Gerald A., additional, Zubair, Yusuf, additional, Williams, Uduak E., additional, Taiwo, Funlola T., additional, Oyakhire, Shyngle I., additional, Oshinaike, Olajumoke O., additional, Osemwegie, Nosakhare, additional, Osaigbovo, Godwin O., additional, Odiase, Francis E., additional, Odeniyi, Olanike A., additional, Obiabo, Yahaya O., additional, Obehighe, Emmanuel E., additional, Nwazor, Ernest O., additional, Nwani, Paul O., additional, Kehinde, Abiodun J., additional, Erameh, Cyril O., additional, Ekenze, Oluchi S., additional, Dike, Franklin O., additional, Balarabe, Salisu A., additional, Arigbodi, Ohwotemu, additional, Arabambi, Babawale, additional, Ani‐Osheku, Ifeyinwa, additional, Ali, Mohammed W., additional, Akpekpe, John E., additional, Akinyemi, Rufus O., additional, Agulanna, Uchechi, additional, Agu, Christian E., additional, Agabi, Osigwe P., additional, Ademiluyi, Babatunde A., additional, Adebowale, Akintunde A., additional, Achoru, Charles O., additional, Abiodun, Oladunni V., additional, Rizig, Mie, additional, and Okubadejo, Njideka U., additional

Published
2021
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37. LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study

Author

Sendekova, Daniela, Cobejova, Jana, Cobej, Martin, Sukovska, Viktoria, Pálvölgyi, Károlyné, Kovacs, Norbert, Pintér, David, Ruzicka, Evzen, Holly, Petr, Dusek, Petr, Starkova, Irena, Brdkova, Jana, Smilowska, Katarzyna, Falup-Pecurariu, Cristian, Diaconu, Stefania, Klivenyi, Peter, Balaz, Marek, Skorvanek, Matej, Rizig, Mie, Athanasiou-Fragkouli, Alkyoni, Necpal, Jan, Straka, Igor, Tamas, Gertrud, Kurca, Egon, Mosejova, Alexandra, Han, Vladimir, Lorincova, Tatiana, Ostrozovicova, Miriam, Liesenerova, Simona, Levicka, Petra, Fajcikova, Lucia, Minar, Michal, Valkovic, Peter, Mákos, Orsolya, Kelemen, Andrea, Grofik, Milan, Cibulka, Michal, Jama, Fatumah, and Houlden, Henry

Published
2021
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38. Identification of candidate parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

Author

Kia, Demis A., Zhang, David, Guelfi, Sebastian, Manzoni, Claudia, Hubbard, Leon, Reynolds, Regina H., Botía, Juan, Ryten, Mina, Ferrari, Raffaele, Lewis, Patrick A., Williams, Nigel, Trabzuni, Daniah, Hardy, John, Wood, Nicholas W., Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helene, Holmans, Peter, Bras, Jose, PhD, John Quinn, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Faghri, Faraz, Gibbs, J. Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., 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., Gan-Or, Ziv, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Javier Barrero, Francisco, Bergareche Yarza, Jesús A., Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María T., Buiza-Rueda, Dolores, Càmara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernàndez, Manel, Fernàndez-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria J., Gonzalez-Aramburu, Isabel, Pagola, Ana G., Hoenicka, Janet, Infante, Jon, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, Arregui, Adolfo López de Munain, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Mèndez-del-Barrio, Carlota, González, Manuel Menéndez, Adolfo Mínguez, Marina Mata, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Perinán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Weale, Michael, Ramasamy, Adaikalavan, Smith, Colin, Guelfi, Manuel Sebastian, D'sa, Karishma, Forabosco, Paola, Botiá, Juan A., and Universidad de Cantabria

Subjects
Candidate gene, Protein catabolic process, Gene Expression, Genome-wide association study, Computational biology, Biology, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Humans, Online First, 030212 general & internal medicine, Epigenetics, Gene, Genetic Association Studies, Genetic association, Original Investigation, Research, Parkinson Disease, Protein ubiquitination, Neurology (clinical), Candidate Disease Gene, 030217 neurology & neurosurgery, Comments, Genome-Wide Association Study
Abstract

Key Points Question What genes and genomic processes underlie risk of sporadic Parkinson disease? Findings This genetic association study integrated Parkinson disease genome-wide association study data and brain-derived gene regulation data using various complementary bioinformatic tools and identified 11 candidate genes with evidence of disease-associated regulatory changes. Coexpression and protein level analyses of these genes demonstrated a significant functional association with known mendelian Parkinson disease genes. Meaning This study suggests that gene regulation data may be used to identify candidate genes and pathways involved in sporadic Parkinson disease., Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD. Objective To investigate what genes and genomic processes underlie the risk of sporadic PD. Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks. Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role. Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance. Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies., This genetic association study investigates what genes and genomic processes underlie the risk of sporadic Parkinson disease.

Published
2021

39. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Author

Blauwendraat, Cornelis, Iwaki, Hirotaka, Gibbs, Jesse R, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Troycoco, Timothy, Finkbeiner, Steven, Mencacci, Niccolo E, Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W, Reed, Xylena, Hernandez, Dena Michelle Godwin, Uitti, Ryan J, Ross, Owen A, Grenn, Francis P, Moore, Anni, Alcalay, Roy N, Wszolek, Zbigniew K, Gan-Or, Ziv, Rouleau, Guy A, Krohn, Lynne, Mufti, Kheireddin, Ruskey, Jennifer A, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Blazquez, Marta, Pihlstrøm, Lasse, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Toft, Mathias, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Heredia, Maria Jose Gomez, Gonzalez-Aramburu, Isabel, Pagola, Ana Gorostidi, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, Jose Luis, de Munain Arregui, Adolfo López, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-Del-Barrio, Carlota, González, Manuel Menéndez, Schulte, Claudia, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Brockmann, Kathrin, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Sharma, Manu, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Taba, Pille, Koks, Sulev, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Makarious, Mary B, Tienari, Pentti, Okubadejo, Njideka U, Ojo, Oluwadamilola O, Kaiyrzhanov, Rauan, Shashkin, Chingiz, Zharkinbekova, Nazira, Akhmetzhanov, Vadim, Kaishybayeva, Gulnaz, Karimova, Altynay, Khaibullin, Talgat, Lynch, Timothy L, Eerola-Rautio, Johanna, Tienari, Pentti J, Grosset, Donald G, Lesage, Suzanne, Corvol, Jean-Christophe, Brice, Alexis, Wood, Nick, Hardy, John, Bandres-Ciga, Sara, Heutink, Peter, Gasser, Thomas, Morris, Huw R, Noyce, Alastair J, Nalls, Mike A, Consortium, and the International Parkinson's Disease Genomics, Leonard, Hampton L, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Storm, Catherine S, Plun-Favreau, Helene, Holmans, Peter, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y, Kinghorn, Kerri J, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian R, Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Lake, Julie, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Clarke, Carl, Harvey, Kirsten, Jacobs, Benjamin M, Danjou, Fabrice, Martinez, Maria, Simón-Sánchez, Javier, Rizzu, Patrizia, Schneider, Susanne A, Cookson, Mark R, Craig, David W, Billingsley, Kimberley, Kim, Jonggeol J, Narendra, Derek P, Faghri, Faraz, Gibbs, J Raphael, Van Keuren-Jensen, Kendall, Shulman, Joshua M, Robak, Laurie, Universidad de Cantabria, HUS Neurocenter, Neurologian yksikkö, Department of Neurosciences, University of Helsinki, Clinicum, Research Programs Unit, and Eija Pirinen / Principal Investigator

Subjects
0301 basic medicine, Male, Genotype, EFFICIENT, Physiology, Genome-wide association study, Disease, Biology, Genetic correlation, 3124 Neurology and psychiatry, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, genetics [Parkinson Disease], Genetic variation, Humans, Genetic Predisposition to Disease, ddc:610, Parkinson Disease/genetics, METAANALYSIS, Research Articles, Genetic association, Aged, RISK, Sex Characteristics, Autosome, 3112 Neurosciences, Parkinson Disease, Heritability, Middle Aged, Genetic architecture, 3. Good health, 030104 developmental biology, Neurology, Female, GENDER, Neurology (clinical), 030217 neurology & neurosurgery, Research Article, Genome-Wide Association Study
Abstract

Methods: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson?s Disease Genomics Consortium and the UK Biobank consisting of 13,020male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWASmeta-analyses to identify distinct patterns of genetic risk contributing to disease inmale versus female PD cases. Results: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (~ 20%). Interpretation: We did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients. FUNDING: This work was supported in part by the Intramural Research Programs of the National Institute of Neurological Disorders and Stroke (NINDS), the National Institute on Aging (NIA), and the National Institute of Environmental Health Sciences both part of the National Institutes of Health, Department of Health and Human Services; Project numbers 1ZIA-NS003154, Z01-AG000949-02, and Z01-ES101986. In addition, this work was supported by the Department of Defense (award W81XWH-09-2-0128), and The Michael J. Fox Foundation for Parkinson’s Research. This work was supported by National Institutes of Health grants R01NS037167, R01CA141668, and P50NS071674, American Parkinson Disease Association (APDA); Barnes Jewish Hospital Foundation; Greater St Louis Chapter of the APDA. The KORA (Cooperative Research in the Region of Augsburg) research platform was started and financed by the Forschungszentrum für Umwelt und Gesundheit, which is funded by the German Federal Ministry of Education, Science, Research, and Technology and by the State of Bavaria. This study was also funded by the German Federal Ministry of Education and Research (BMBF) under the funding code 031A430A, the EU Joint Programme - Neurodegenerative Diseases Research (JPND) project under the aegis of JPND -www.jpnd.eu – through Germany, BMBF, funding code 01ED1406 and iMed – the Helmholtz Initiative on Personalized Medicine. This study utilized the high-performance computational capabilities of the Biowulf Linux cluster at the National Institutes of Health, Bethesda, MD, USA (http://biowulf.nih.gov), and DNA panels, samples, and clinical data from the National Institute of Neurological Disorders and Stroke Human Genetics Resource Center DNA and Cell Line Repository. People who contributed samples are acknowledged in descriptions of every panel on the repository website. We thank P. Tienari (Molecular Neurology Programme, Biomedicum, University of Helsinki), T. Peuralinna (Department of Neurology, Helsinki University Central Hospital), L. Myllykangas (Folkhalsan Institute of Genetics and Department of Pathology, University of Helsinki), and R. Sulkava (Department of Public Health and General Practice Division of Geriatrics, University of Eastern Finland) for the Finnish controls (Vantaa85+ GWAS data). This study was also funded by the Sigrid Juselius Foundation (KM). We used genomewide association data generated by the Wellcome Trust Case–Control Consortium 2 (WTCCC2) from UK patients with Parkinson’s disease and UK control individuals from the 1958 Birth Cohort and National Blood Service. UK population control data was made available through WTCCC1. As with previous IPDGC efforts, this study makes use of data generated by the Wellcome Trust Case-Control Consortium. A full list of the investigators who contributed to the generation of the data is available from www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under awards 076113, 085475, and 090355. This study was also supported by Parkinson’s UK (grants 8047 and J-0804) and the Medical Research Council (G0700943 and G1100643). Sequencing and genotyping done in McGill University was supported by grants from the Michael J. Fox Foundation, the Canadian Consortium on Neurodegeneration in Aging (CCNA), the Canada First Research Excellence Fund (CFREF), awarded to McGill University for the Healthy Brains for Healthy Lives (HBHL) program and Parkinson’s Society Canada. The access to part of the participants at McGill has been made possible thanks to the Quebec Parkinson’s Network (http://rpq-qpn.ca/en). We thank the Quebec Parkinson’s Network (http://rpq-qpn.org) and its members. Harvard NeuroDiscovery Biomarker Study (HBS) is a collaboration of HBS investigators and funded through philanthropy and NIH and Non-NIH funding sources. The HBS Investigators have not participated in reviewing the data analysis or content of the manuscript. PPMI – a public-private partnership – is funded by the Michael J. Fox Foundation for Parkinson’s Research and funding partners, the full names of all of the PPMI funding partners can be found at www.ppmi-info.org/ fundingpartners. The PPMI Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit www.ppmi-info.org. Parkinson’s Disease Biomarker Program (PDBP) consortium is supported by the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health. A full list of PDBP investigators can be found at https://pdbp.ninds.nih.gov/ policy. The PDBP Investigators have not participated in reviewing the data analysis or content of the manuscript

Published
2021
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40. Identification of sixteen novel candidate genes for late onset Parkinson's disease

Author

Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A., Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helen, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W., Lewis, Patrick, Schreglmann, Sebastian, Lovering, Rruth, R'Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E., Clarke, Carl, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Narendra, Derek, 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, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Zin, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain Arregui, Adolfo, Macias, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sanchez Rodriguez, Antonio, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Shashkin, Chingiz, Zharkynbekova, Nazira, Akhmetzhanov, Vadim, Aitkulova, Akbota, Zholdybayeva, Elena, Zharmukhanov, Zharkyn, Kaishybayeva, Gulnaz, Karimova, Altynay, Sadykova, Dinara, Iacoviello, Licia, Gianfrancesco, F., Acampora, D., D'Esposito, M., Simeone, A., Ciullo, M., Esposito, T., and Universidad de Cantabria

Subjects
0301 basic medicine, Male, Aging, Candidate gene, Parkinson's disease, Neurodegenerative, Bioinformatics, 0302 clinical medicine, Late onset Parkinson’s disease, Novel candidate genes for Parkinson’s disease, Rare variant burden analysis, Whole exome sequencing, Adult, Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Middle Aged, Parkinson Disease, Pedigree, Whole Exome Sequencing, 2.1 Biological and endogenous factors, Medicine, Novel candidate genes for Parkinson's disease, Aetiology, Exome, Exome sequencing, screening and diagnosis, education.field_of_study, Parkinson's Disease, LRRK2, International Parkinson’s Disease Genomics Consortium, Detection, Neurological, Late onset Parkinson's disease, 4.2 Evaluation of markers and technologies, Research Article, Clinical Sciences, Population, 03 medical and health sciences, Cellular and Molecular Neuroscience, Clinical Research, Exome Sequencing, Genetics, RC346-429, education, Molecular Biology, Neurology & Neurosurgery, business.industry, Genetic heterogeneity, Prevention, RC952-954.6, Neurosciences, PARK7, medicine.disease, Brain Disorders, 030104 developmental biology, Geriatrics, Neurology. Diseases of the nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD. Methods The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls). Results Family-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been associated to PD before, were expressed in mesencephalon and were involved in pathways potentially deregulated in PD. Mutation analysis in independent cohorts disclosed a significant excess of highly deleterious variants in cases (p = 0.0001), supporting their role in PD. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in the 26 genes may predict PD occurrence in about 20% of patients, both familial and sporadic cases, with high specificity (> 93%; p = 4.4 × 10− 5). Moreover, our data highlight the fact that the genetic landmarks of late onset PD does not systematically differ between sporadic and familial forms, especially in the case of small nuclear families and underline the importance of rare variants in the genetics of sporadic PD. Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment. Conclusions Besides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment.

Published
2021
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42. Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.

Author

Schumacher‐Schuh, Artur Francisco, Bieger, Andrei, Okunoye, Olaitan, Mok, Kin Ying, Lim, Shen‐Yang, Bardien, Soraya, Ahmad‐Annuar, Azlina, Santos‐Lobato, Bruno Lopes, Strelow, Matheus Zschornack, Salama, Mohamed, Rao, Shilpa C., Zewde, Yared Zenebe, Dindayal, Saiesha, Azar, Jihan, Prashanth, Lingappa Kukkle, Rajan, Roopa, Noyce, Alastair J., Okubadejo, Njideka, Rizig, Mie, and Lesage, Suzanne

Abstract

Background: Human genetics research lacks diversity; over 80% of genome‐wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. Objective: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. Methods: We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non‐European populations. Two levels of independent reviewers identified and extracted information. Results: We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome‐wide approach published up to 2021, including URPs. Conclusion: This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2022
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43. LRRK2 mutations in Parkinson's disease patients from Central Europe: A case control study

Author

Skorvanek, Matej, primary, Rizig, Mie, additional, Athanasiou-Fragkouli, Alkyoni, additional, Necpal, Jan, additional, Straka, Igor, additional, Tamas, Gertrud, additional, Kurca, Egon, additional, Mosejova, Alexandra, additional, Han, Vladimir, additional, Lorincova, Tatiana, additional, Ostrozovicova, Miriam, additional, Liesenerova, Simona, additional, Levicka, Petra, additional, Fajcikova, Lucia, additional, Minar, Michal, additional, Valkovic, Peter, additional, Mákos, Orsolya, additional, Kelemen, Andrea, additional, Grofik, Milan, additional, Cibulka, Michal, additional, Jama, Fatumah, additional, Houlden, Henry, additional, Sendekova, Daniela, additional, Cobejova, Jana, additional, Cobej, Martin, additional, Sukovska, Viktoria, additional, Pálvölgyi, Károlyné, additional, Kovacs, Norbert, additional, Pintér, David, additional, Ruzicka, Evzen, additional, Holly, Petr, additional, Dusek, Petr, additional, Starkova, Irena, additional, Brdkova, Jana, additional, Smilowska, Katarzyna, additional, Falup-Pecurariu, Cristian, additional, Diaconu, Stefania, additional, Klivenyi, Peter, additional, and Balaz, Marek, additional

Published
2021
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44. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Author

Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Hannah, Michael G., Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Tucci, Arianna, Fiorillo, Chiara, Rissotto, Federico, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Romeo, Carmelo, Magrinelli, Francesca, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Farello, Giovanni, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Belcastro, Vincenzo, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Nanni, Giuliana, Scorrano, Giovanna, Fiorile, Maria F., Brancati, Francesco, Di Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elia, Maurizio, Terrone, Gaetano, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Zazzeroni, Francesca, Alesse, Edoardo, Manti, Filippo, Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Javed, Iram, Rahman, Fatima, Ahmed, Muhammad Mehboob, Parisi, Pasquale, Borgia, Paola, Mangano, Giuseppe D., Chiarelli, Francesco, Genomics, Queen Square, Accogli, Andrea, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, and Houlden, Henry

Abstract

The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11(c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.

Published
2022
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47. The Nigeria Parkinson Disease Registry: Process, Profile, and Prospects of a Collaborative Project

Author

Ojo, Oluwadamilola O., primary, Abubakar, Sani A., additional, Iwuozo, Emmanuel U., additional, Nwazor, Ernest O., additional, Ekenze, Oluchi S., additional, Farombi, Temitope H., additional, Akinyemi, Rufus O., additional, Williams, Uduak E., additional, Bello, Abiodun H., additional, Wahab, Kolawole W., additional, Iyagba, Alagoma M., additional, Arigbodi, Ohwotemu, additional, Erameh, Cyril O., additional, Komolafe, Morenikeji A., additional, Fawale, Michael B., additional, Onwuegbuzie, Gerald A., additional, Obiabo, Yahaya O., additional, Taiwo, Funlola T., additional, Agu, Christian E., additional, Ekeh, Bertha C., additional, Osaigbovo, Godwin O., additional, Achoru, Charles O., additional, Arabambi, Babawale, additional, Adeniji, Olaleye, additional, Nwani, Paul O., additional, Nwosu, Cosmas M., additional, Ademiluyi, Babatunde A., additional, Oyakhire, Shyngle I., additional, Nyandaiti, Yakub, additional, Rabiu, Musbahu, additional, Chapp‐Jumbo, Emmanuel N., additional, Balarabe, Salisu A., additional, Otubogun, Folajimi M., additional, Obehighe, Emmanuel E., additional, Kehinde, Abiodun J., additional, Ani‐Osheku, Ifeyinwa, additional, Imarhiagbe, Frank A., additional, Dike, Franklin O., additional, Adebowale, Akintunde A., additional, Agabi, Osigwe P., additional, Akpekpe, John E., additional, Ali, Mohammed W., additional, Odeniyi, Olanike A., additional, Odiase, Francis E., additional, Abiodun, Oladunni V., additional, Olowoyo, Paul, additional, Osemwegie, Nosakhare, additional, Oshinaike, Olajumoke O., additional, Owolabi, Lukman F., additional, Zubair, Yusuf A., additional, Rizig, Mie, additional, and Okubadejo, Njideka U., additional

Published
2020
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48. Parkinson’s Disease in Kazakhstan: Clinico-Demographic Description of a Large Cohort

Author

Kaiyrzhanov, Rauan, primary, Zharkinbekova, Nazira, additional, Shashkin, Chingiz, additional, Khaibullin, Talgat, additional, Kaishibayeva, Gulnaz, additional, Akhmetzhanov, Vadim, additional, Sadykova, Dinara Z., additional, Seidinova, Zhanar, additional, Taskinbayeva, Anjela, additional, Karimova, Altynay, additional, Rizig, Mie, additional, and Houlden, Henry, additional

Published
2020
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49. LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan

Author

Kaiyrzhanov, Rauan, primary, Aitkulova, Akbota, additional, Shashkin, Chingiz, additional, Zharkinbekova, Nazira, additional, Rizig, Mie, additional, Zholdybayeva, Elena, additional, Jarmukhanov, Zharkyn, additional, Akhmetzhanov, Vadim, additional, Kaishibayeva, Gulnaz, additional, Khaibullin, Talgat, additional, Karimova, Altynay, additional, Akshulakov, Serik, additional, Bralov, Askhat, additional, Kissamedenov, Nurlan, additional, Seidinova, Zhanar, additional, Taskinbayeva, Anjela, additional, Muratbaikyzy, Aliya, additional, and Houlden, Henry, additional

Published
2020
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50. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Author

Nalls, Mike A, primary, Blauwendraat, Cornelis, additional, Vallerga, Costanza L, additional, Heilbron, Karl, additional, Bandres-Ciga, Sara, additional, Chang, Diana, additional, Tan, Manuela, additional, Kia, Demis A, additional, Noyce, Alastair J, additional, Xue, Angli, additional, Bras, Jose, additional, Young, Emily, additional, von Coelln, Rainer, additional, Simón-Sánchez, Javier, additional, Schulte, Claudia, additional, Sharma, Manu, additional, Krohn, Lynne, additional, Pihlstrøm, Lasse, additional, Siitonen, Ari, additional, Iwaki, Hirotaka, additional, Leonard, Hampton, additional, Faghri, Faraz, additional, Gibbs, J Raphael, additional, Hernandez, Dena G, additional, Scholz, Sonja W, additional, Botia, Juan A, additional, Martinez, Maria, additional, Corvol, Jean-Christophe, additional, Lesage, Suzanne, additional, Jankovic, Joseph, additional, Shulman, Lisa M, additional, Sutherland, Margaret, additional, Tienari, Pentti, additional, Majamaa, Kari, additional, Toft, Mathias, additional, Andreassen, Ole A, additional, Bangale, Tushar, additional, Brice, Alexis, additional, Yang, Jian, additional, Gan-Or, Ziv, additional, Gasser, Thomas, additional, Heutink, Peter, additional, Shulman, Joshua M, additional, Wood, Nicholas W, additional, Hinds, David A, additional, Hardy, John A, additional, Morris, Huw R, additional, Gratten, Jacob, additional, Visscher, Peter M, additional, Graham, Robert R, additional, Singleton, Andrew B, additional, Adarmes-Gómez, Astrid D, additional, Aguilar, Miquel, additional, Aitkulova, Akbota, additional, Akhmetzhanov, Vadim, additional, Alcalay, Roy N, additional, Alvarez, Ignacio, additional, Alvarez, Victoria, additional, Barrero, Francisco Javier, additional, Bergareche Yarza, Jesús Alberto, additional, Bernal-Bernal, Inmaculada, additional, Billingsley, Kimberley, additional, Blazquez, Marta, additional, Bonilla-Toribio, Marta, additional, Botía, Juan A, additional, Boungiorno, María Teresa, additional, Brockmann, Kathrin, additional, Bubb, Vivien, additional, Buiza-Rueda, Dolores, additional, Cámara, Ana, additional, Carrillo, Fátima, additional, Carrión-Claro, Mario, additional, Cerdan, Debora, additional, Chelban, Viorica, additional, Clarimón, Jordi, additional, Clarke, Carl, additional, Compta, Yaroslau, additional, Cookson, Mark R, additional, Craig, David W, additional, Danjou, Fabrice, additional, Diez-Fairen, Monica, additional, Dols-Icardo, Oriol, additional, Duarte, Jacinto, additional, Duran, Raquel, additional, Escamilla-Sevilla, Francisco, additional, Escott-Price, Valentina, additional, Ezquerra, Mario, additional, Feliz, Cici, additional, Fernández, Manel, additional, Fernández-Santiago, Rubén, additional, Finkbeiner, Steven, additional, Foltynie, Thomas, additional, Garcia, Ciara, additional, García-Ruiz, Pedro, additional, Gomez Heredia, Maria Jose, additional, Gómez-Garre, Pilar, additional, González, Manuel Menéndez, additional, Gonzalez-Aramburu, Isabel, additional, Guelfi, Sebastian, additional, Guerreiro, Rita, additional, Hardy, John, additional, Hassin-Baer, Sharon, additional, Hoenicka, Janet, additional, Holmans, Peter, additional, Houlden, Henry, additional, Infante, Jon, additional, Jesús, Silvia, additional, Jimenez-Escrig, Adriano, additional, Kaishybayeva, Gulnaz, additional, Kaiyrzhanov, Rauan, additional, Karimova, Altynay, additional, Kinghorn, Kerri J, additional, Koks, Sulev, additional, Kulisevsky, Jaime, additional, Labrador-Espinosa, Miguel A, additional, Leonard, Hampton L, additional, Lewis, Patrick, additional, Lopez-Sendon, Jose Luis, additional, Lovering, Ruth, additional, Lubbe, Steven, additional, Lungu, Codrin, additional, Macias, Daniel, additional, Manzoni, Claudia, additional, Marín, Juan, additional, Marinus, Johan, additional, Marti, Maria Jose, additional, Martínez Torres, Irene, additional, Martínez-Castrillo, Juan Carlos, additional, Mata, Marina, additional, Mencacci, Niccolo E, additional, Méndez-del-Barrio, Carlota, additional, Middlehurst, Ben, additional, Mínguez, Adolfo, additional, Mir, Pablo, additional, Mok, Kin Y, additional, Muñoz, Esteban, additional, Nalls, Mike A, additional, Narendra, Derek, additional, Ojo, Oluwadamilola O, additional, Okubadejo, Njideka U, additional, Pagola, Ana Gorostidi, additional, Pastor, Pau, additional, Perez Errazquin, Francisco, additional, Periñán-Tocino, Teresa, additional, Pihlstrom, Lasse, additional, Plun-Favreau, Helene, additional, Quinn, John, additional, R'Bibo, Lea, additional, Reed, Xylena, additional, Rezola, Elisabet Mondragon, additional, Rizig, Mie, additional, Rizzu, Patrizia, additional, Robak, Laurie, additional, Rodriguez, Antonio Sanchez, additional, Rouleau, Guy A, additional, Ruiz-Martínez, Javier, additional, Ruz, Clara, additional, Ryten, Mina, additional, Sadykova, Dinara, additional, Schreglmann, Sebastian, additional, Shashkin, Chingiz, additional, Sierra, María, additional, Suarez-Sanmartin, Esther, additional, Taba, Pille, additional, Tabernero, Cesar, additional, Tan, Manuela X, additional, Tartari, Juan Pablo, additional, Tejera-Parrado, Cristina, additional, Tolosa, Eduard, additional, Trabzuni, Daniah, additional, Valldeoriola, Francesc, additional, van Hilten, Jacobus J, additional, Van Keuren-Jensen, Kendall, additional, Vargas-González, Laura, additional, Vela, Lydia, additional, Vives, Francisco, additional, Williams, Nigel, additional, Zharkinbekova, Nazira, additional, Zharmukhanov, Zharkyn, additional, Zholdybayeva, Elena, additional, Zimprich, Alexander, additional, Ylikotila, Pauli, additional, Shulman, Lisa M., additional, Reich, Stephen, additional, Savitt, Joseph, additional, Agee, Michelle, additional, Alipanahi, Babak, additional, Auton, Adam, additional, Bell, Robert K., additional, Bryc, Katarzyna, additional, Elson, Sarah L., additional, Fontanillas, Pierre, additional, Furlotte, Nicholas A., additional, Huber, Karen E., additional, Hicks, Barry, additional, Jewett, Ethan M., additional, Jiang, Yunxuan, additional, Kleinman, Aaron, additional, Lin, Keng-Han, additional, Litterman, Nadia K., additional, McCreight, Jennifer C., additional, McIntyre, Matthew H., additional, McManus, Kimberly F., additional, Mountain, Joanna L., additional, Noblin, Elizabeth S., additional, Northover, Carrie A.M., additional, Pitts, Steven J., additional, Poznik, G. David, additional, Sathirapongsasuti, J. Fah, additional, Shelton, Janie F., additional, Shringarpure, Suyash, additional, Tian, Chao, additional, Tung, Joyce, additional, Vacic, Vladimir, additional, Wang, Xin, additional, Wilson, Catherine H., additional, Anderson, Tim, additional, Bentley, Steven, additional, Dalrymple-Alford, John, additional, Fowdar, Javed, additional, Halliday, Glenda, additional, Henders, Anjali K., additional, Hickie, Ian, additional, Kassam, Irfahan, additional, Kennedy, Martin, additional, Kwok, John, additional, Lewis, Simon, additional, Mellick, George, additional, Montgomery, Grant, additional, Pearson, John, additional, Pitcher, Toni, additional, Sidorenko, Julia, additional, Silburn, Peter A., additional, Vallerga, Costanza L., additional, Visscher, Peter M., additional, Wallace, Leanne, additional, Wray, Naomi R., additional, and Zhang, Futao, additional

Published
2019
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