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Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology
Movement Disorders, EarlyView.Abstract Background
Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective
We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...Kathryn Step, Carlos F. Hernández, Marzieh Khani, Esraa Eltaraifee, Ana Jimena Hernández‐Medrano, Pin‐Jui Kung, Miriam Ostrožovičová, Alexandra Zirra, Eduardo Pérez‐Palma, Niccolò E. Mencacci, Ignacio J. Keller Sarmiento, Huw R. Morris, Ignacio F. Mata, Juliana Acosta‐Uribe, Zih‐Hua Fang, Sara Bandres‐Ciga, on behalf of the Global Parkinson's Genetics Program (GP2), Yasser Mecheri, Bouchetara Mohamed Sofiane, Benhassine Traki, Emilia Mabel Gatto, Marcelo Kauffman, Federico Capparelli, Maria Valentina Muller, Marcela Susana Tela, Dario Sergio Adamec, Cesar Avila, Samson Khachatryan, Zaruhi Tavadyan, Mariam Isayan, Claire Shepherd, Kishore Kumar, Melina Ellis, Miguel Rentería, Sulev Koks, Simon Rowel, Dennis Yeow, Carolyn Sue, Victor Ocampo, Christine Wools, Keren Aliza Weiss, Sue‐Faye Siow, Ryan Davis, Amanda Willis, Steven He, Robert Arthur Wilcox, Denise Howting, Jack David Price, Pak Leng Cheong, Michel Tchan, Mary‐Anne Young, Catriona Mclean, Nicholas Martin, Hugo Morales Briceño, Thomas Kimber, Kathy Wu, John O'Sullivan, Lewis Singleton, Laura Ivete Rudaks, Luis García‐Marín, Alexander Zimprich, Kanan Jafarov, Kenan Ceferov, Imran Sarker, David Crosiers, Artur Schumacher‐Schuh, Carlos Rieder, Paula Awad, Vitor Tumas, Sarah Camargos, Lucas Costa, Pedro Neto, Oury Monchi, Edward Fon, Robert Thibault, Ziv Gan‐Or, Meron Teferra, Anthony Lang, Konstantin Senkevich, Marcelo Miranda, Maria Bustamante, Juan Nuñez, Boris Lucero, Alicia Colombo, Maria Teresa Personal, Eduardo Palma, Pedro Chana‐Cuevas, Ana Belen Miranda Cortes, María Eugenia Contreras Pinto, Francisca Canals, Benjamín Galleguillos, Patricio Alejandro Olguín Aguilera, Elias Fernandez‐Toledo, Benjamin Pizarro Galleguillos, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Zhenhua Liu, Germaine Chan, Nancy Ip, Nelson Yuk‐Fai Cheung, Phillip Chan, Xiaopu Zhou, Gonzalo Arboleda, Jorge Orozco, David Antonio Pineda‐Salazar, Beatriz Ospina, Tatiana Lopez‐Gonzalez, Carlos Velez‐Pardo, Marlene Jimenez‐Del‐Rio, Sonia Masmela, Alvaro Hernandez, Per Borghammer, Mohamed Salama, Walaa Kamel, Tatiana Ascencio, Oscar Peña‐Rodas, Susana Lissette Martínez, Yared Zewde, Alexis Brice, Jean‐Christophe Corvol, Mari Vidailhet, Mathieu Anheim, Yves Agid, Louise‐Laure Mariani, Alexandra Durr, Ory Magne Fabienne, Suzanne Lesage, Defebvre Luc, Tesson Christelle, Philippe Damier, François Tison, Stéphane Thobois, Jean‐Luc Houeto, Brefel‐Courbon Christine, Sara Sambin, Aymeric Lanore, Mariam Kekenadze, Irine Khatiashvili, Maia Beridze, Sophia Sopromadze, Irine Khatiashvilli, Mariam Mshvenieradze, Marika Megrelishvili, Alexander Tsiskaridze, Ana Westenberger, Anastasia Illarionova, Brit Mollenhauer, Christine Klein, Eva‐Juliane Vollstedt, Franziska Hopfner, Günter Höglinger, Harutyun Madoev, Joanne Trinh, Katja Lohmann, Manu Sharma, Sergiu Groppa, Thomas Gasser, Zih‐Hua Fang, Karl Heilbron, Wenhua Sun, Inke König, Daniela Berg, Bernhard Haslinger, Teresa Kleinz, Norbert Brüggemann, Konstantin Kufer, Antonia Maria Buchal, Matthias Höllerhage, Florian Wegner, Nils Schroeter, Kathrin Brockmann, Isabel Wurster, Theresa Lüth, Christian Beetz, Krishnakumar Kandaswamy, Eva Schäffer, Kirsten Zeuner, Gregor Kuhlenbäumer, Peter Bauer, Martin Klietz, Carolin Gabbert, Alexander Balck, Albert Akpalu, Momodou Cham, Vida Obese, Georgia Xiromerisiou, Georgios Hadjigorgiou, Ioannis Dagklis, Ioannis Tarnanas, Leonidas Stefanis, Maria Stamelou, Efthymios Dadiotis, Tsamis Konstantinos, Konitsiotis Spyridon, Iro Boura, Maria Lina Florentin, Maria Makrygianni, Foivos Kanellos, Cleanthe Spanaki, Alex Medina, Evelin Álvarez Herrera, Heike Joya, Reyna Durón, Glenda Oliva Fuentes, Eduardo Murillo, Kari Stefansson, Hreinn Stefansson, Vala Palmadottir, Astros Skuladottir, Asha Kishore, Divya Kp, Pramod Pal, Prashanth Kukkle, Roopa Rajan, Rupam Borgohain, Mehri Salari, Tamara Shiner, Avner Thaler, Noa Bregman, Andrea Quattrone, Enza Maria Valente, Grazia Annesi, Lucilla Parnetti, Micol Avenali, Monica Gagliardi, Tommaso Schirinzi, Caterina Galandra Galandra, Anna De Rosa, Rosangela Ferese, Jolanda Buonocore, Radha Procopio, Ilaria Palmieri, Michele Terzaghi, Manabu Funayama, Nobutaka Hattori, Tomotaka Shiraishi, Kensuke Daida, Altynay Karimova, Gulnaz Kaishibayeva, Aigerim Utegenova, Vadim Akhmetzhanov, Seitzhan Aidarov, Tautanova Raushan, Dinara Alzhanova, Zhanybek Myrzayev, Saltanat Abdraimova, Nazira Zharkinbekova, Chingiz Shashkin, Guzel Shiderova, Bagzhan Syzdykova, Aigul Yermagambetova, Alima Khamidulla, Zhanylsyn Urasheva, Gulnar Kabdrakhmanova, Talgat Khaibullin, Altynay Talgatkyzy, Cholpon Shambetova, Rejko Krüger, Patrick May, Ai Huey Tan, Azlina Ahmad‐Annuar, Mohamed Ibrahim Norlinah, Nor Azian Abdul Murad, Shahrul Azmin, Shen‐Yang Lim, Wael Mohamed, Yi Wen Tay, Lim Kai‐Shi, Azalea Pajo, Chia Kang, Joshua Ern, Khairul Azmi Ibrahim, Ahmad Shahir Mawardi, Lim Thien, Tzi Shin Toh, Daniel Martinez‐Ramirez, Paula Reyes‐Pérez, Alejandra Medina Rivera, Nancy Monroy Jaramillo, Nadia Alejandra Gandarilla Martinez, Ingrid Estrada‐Bellmann, Araliz Puente, Ana Paula Angulo Arrieta, Eugenia Morelos Figaredo, Karla Salinas Barboza, Dante Bernardo Oropeza Canto, Mayela Rodríguez‐Violante, Ana Jimena Hernández‐Medrano, Amin Cervantes‐Arriaga, Edith Janeth Gaspar Martínez, Alejandra Ruiz‐Contreras, Alejandra Lázaro‐Figueroa, Bayasgalan Tserensodnom, Khosbayar Tulgaa, Oyujin Ulziibaatar, Ahmed Bouhouche, Mossafa Hossain, Rajeev Ojha, Wilma Van De Berg, Bas Bleom, Bart van de Warrenburg, Lisette Charbonnier, Tim Anderson, Toni Pitcher, Daniel Jeremy Myall, John Dalrymple‐Alford, Arinola Sanyaolu, Njideka Okubadejo, Lara Ojo, Oluwadamilola Ojo, Simon Izuchukwu Ozomma, Kolawole Wahab, Oladunni Abiodun, Sani Abubakar, Fatimah Abdulai, Charles Achoru, Osigwe Agabi, Uchechi Agulanna, Rufus Akinyemi, Wemimo Alaofin, Ifeyinwa Ani‐Osheku, Roosevelt Anyanwu, Ohwotemu Arigbodi, Abiodun Bello, Cyril Erameh, Daniel Ezuduemoih, Temitope Farombi, Abdullahi Ibrahim, Ahmed Idowu, Erica Ikwenu, Frank Imarhiagbe, Ismaila Ishola, Emmanuel Iwuozo, Morenikeji Komolafe, Alero Nnama, Paul Nwani, Franscisca Nwaokorie, Ernest Nwazor, Yakub Nyandaiti, Yahaya Obiabo, Nkechi Obianozie, Olanike Odeniyi, Francis Odiase, Ewere Marie Ogbimi, Adebimpe Ogunmodede, Francis Ojini, Rashidat Olanigan, Adedunni Olusanya, Chiamaka Okereke, Gerald Onwuegbuzie, Godwin Osaigbovo, Nosakhare Osemwegie, Olajumoke Oshinaike, Folajimi Otubogun, Lukman Owolabi, Raymond Owolabi, Shyngle Oyakhire, Fadimatu Sa'Ad, Sarah Samuel, Funmilola Taiwo, Yusuf Zubair, Lasse Pihlstrøm, Manuela Tan, Ingeborg Haugesag Lie, Jodi Maple‐Grødem, Solveig Dalbro, Ellen Hoven Maurtveten, Shoaib Ur‐Rehman, Mohamed Nour, Mario Cornejo‐Olivas, Maria Leila Doquenia, Raymond Rosales, Gerard Saranza, Agata Gajos, Elena Iakovenko, Anna Gareeva, Gulnara Akhmadeeva, Irina Gilyazova, Bashayer Al Mubarak, Muhammad Umair, Nataša Dragašević Mišković, Andona Milovanović, Eng‐King Tan, Jia Nee Nee Foo, Elaine Chew, Vesna Van Midden, Ferzana Amod, Jonathan Carr, Soraya Bardien, Nikita Pillay, Kathryn Step, Riaan Van Coller, Beomseok Jeon, Yun Joong Kim, Jung Hwan Shin, Joowon Jang, Jee‐Young Lee, Esther Cubo, Ignacio Alvarez, Janet Hoenicka, Katrin Beyer, Maria Teresa Periñan, Pau Pastor, Ruben Fernandez‐Santiago, Pilar Gómez Garre, Pablo Mir, Mario Ezquerra, Celia Painous Marti, Lola Díaz‐Feliz, José Matías Arbelo González, Juan Carlos Martínez Castrillo, Marina Mata, Oriol De Fabregues, Lydia Vela‐Desojo, Manuel Menendez Gonzalez, Yaroslau Compta, Alicia Garrido, Maria Marti, Almudena Sánchez‐Gómez, Alexia Sánchez Reyes, Laia Muñoz Llahuna, Joaquim Aumatell Escabies, Javier Pagonabarraga Mora, Ignacio Illán Gala, Esteban Muñoz, Manuela San Eufrasio Martínez, Laura Muñoz Delgado, Rafael Díaz Belloso, Sergio García Díaz, Marta Bonilla Toribio, Dolores Buiza Rueda, Antonio Cristobal Luque Ambrosiani, Silvia Jesus Maestre, Daniel Macías García, Elena Ojeda Lepe, Rocío Pineda Sánchez, Ana Castellano Guerrero, Astrid Daniela Adarmes Gómez, Cristina Pérez Calvo, Alejandro Salguero Oviedo, Lorena Clavijo Jiménez, Sarah El‐Sadig, Kajsa Brolin, Per Svenningsson, Maria Swanberg, Christiane Zweier, Gerd Tinkhauser, Paul Krack, Deborah Bartholdi, Chin‐Hsien Lin, Hsiu‐Chuan Wu, Pin‐Jui Kung, Ruey‐Meei Wu, Yihru Wu, Chen Pin‐Shiuan, Ganieva Manizha, Maksudjon Isrofilov, Rim Amouri, Samia Ben Ben Sassi, Chokri Mhiri, Nabli Fatnassi Fatma, Amine Rachdi, Zakaria Saied, Mouna Ben Djebara, Rania Zouari, A. Nazlı Başak, Özgür Öztop Çakmak, Sibel Ertan, Rezzak Yilmaz, Binnur Çelik, Gençer Genç, Muhittin Cenk Akbostancı, Basar Bilgic, Bedia Samanci, Murat Emre, Haşmet Hanağasi, Aysegul Gunduz, Gulcin Benbir Senel, Alastair Noyce, Anette Schrag, Anthony Schapira, Camille Carroll, Donald Grosset, Eleanor Stafford, Henry Houlden, Huw Morris, John Hardy, Kin Ying Mok, Mie Rizig, Nicholas Wood, Nigel Williams, Olaitan Okunoye, Rauan Kaiyrzhanov, Rimona Weil, Seth Love, Simona Jasaityte, Sumit Dey, Spencer Finchv, Valentina Escott‐Price, Hamin Lee, Roger Barker, Mina Ryten, Michele Hu, Laura Parkkinen, Kailash Bhatia, Richard Walker, Steve Gentleman, Thomas Warner, David Burn, Christian Lambert, Caroline Williams‐Gray, Deborah Attuah, Raquel Real, Yen Tai, Alexandra Zirra, Christopher Morris, Matilda Lily Fenn, Andrew Robinson, Lesley Yue Wu, Tessa du Toit, Joshua Luc Isherwood Frost, Federico Roncaroli, Ashvin Kuri, Sheena Waters, Laura Smith, Eduardo de Pablo‐Fernández, Anisa Shahid, Cristina Simonet, Charlotte Dore, Oiher Serrano‐Asensio, Marco Toffoli, Riona Fumiv, Brook Huxford, Harneek Chohan, Sophie Meyer, Laura Pérez‐Carbonell, Solomiia Bandrivska, Saiesha Dindayal, Charlotte Andrews, Emily Navarro Jones, Lara Lange, Alejandro Martínez‐Carrasco, Angel Vinuela, Alyssa O'Grady, Andrew Singleton, Andrew Sobering, Bernadette Siddiqi, Bradford Casey, Brian Fiske, Cabell Jonas, Carlos Cruchaga, Caroline Pantazis, Claire Wegel, Cornelis Blauwendraat, Dan Vitale, Deborah Hall, Dena Hernandez, Ekemini Riley, Faraz Faghri, Geidy Serrano, Hampton Leonard, Hirotaka Iwaki, Honglei Chen, Ignacio Mata, Ignacio Juan Keller Sarmiento, Jared Williamvson, Jonggeol Jeff Kim, Joseph Jankovic, Joshua Shulman, J Solle, Kaileigh Murphy, Kamalini Ghosh Ghosh Galvelis, Karen Nuytemans, Karl Kieburtz, Katerina Markopoulou, Kenneth Marek, Kristin Levine, Lana Chahine, Laura Ibanez, Laurel Screven, Lauren Ruffrage, Lisa Shulman, Luca Marsili, Maggie Kuhl, Marissa Dean, Mary Makarious, Mathew Koretsky, Megan Puckelwartz, Mike Nalls, Naomi Louie, Niccolò Emanuele Mencacci, Roger Albin, Roy Alcalay, Ruth Walker, Sara Bandres‐Ciga, Sohini Chowdhury, Sonya Dumanis, Steven Lubbe, Tao Xie, Tatiana Foroud, Thomas Beach, Todd Sherer, Dana Lewis, Shreya Menon, Melissa Nirenberg, Spencer Grant, Shannon Ballard, Chad Shaw, Sidra Aslam, Devin Sharp, Rachel Saunders‐Pullman, Michiko Kimura Bruno, Matt Farrer, Haydeh Payami, Ryan Pfingst, James Leverenz, Elizabeth Disbrow, Debi Brooks, Randy Schekman, Un Kang, Zbigniew Wszolek, Cyrus Zabetian, Zach Chaney, Christine Swanson‐Fischer, Conor Hennessey, Cassandra Barrett, Beate Ritz, Bradley Boeve, Ashley Rawls, Holly Shill, Erika Driver‐Dunckley, Bruce Chase, Mahesh Padmanaban, Thiago Peixoto Leal, Owen Ross, Michael Rose, Ariane Park, Victoria Klee, James Beck, Suzanne Judd, Daniel Weintraub, Vikas Kotagal, Nicolaas Bohnen, Prabesh Kanel, Chatkaew Pongmala, Erin Williams, Audrey Strongosky, Michael Henderson, Daniel Rohrer, Alexander Blanski, Christina Missler, Alyssa Johansson, Felipe Duarte‐Zambrano, Gist Croft, Lisa Voltolina, Whitley Aamodt, Stewart Factor, Alberto Espay, Nabila Dahodwala, Chantale Branson, vEmily Hill, Krutika Patel, Shyamal Mehta, Emily Waldo, Miguel Inca Martinez, Anne‐Marie Wills, Ejaz Shamim, Charles Adler, Ileana Lorenzini, Peter Heutink, Duan Nguyen, Toan Nguyen, NguyễN Thái Thuỳ Ngân, Ha Ngoc Le Uyen, Tai Ngoc Tran, Khang Vo, Vinh Thanh Nguyen, Masharip Atadzhanov +680 morewiley +1 more sourceNeurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Movement Disorders, EarlyView.Abstract Background
SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective
We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech +24 morewiley +1 more sourceHow Can We Improve the Assessment and Indifferent Outcomes From Pelvic Organ Prolapse Management From Conservative and Surgical Therapies? ICI‐RS 2025
Neurourology and Urodynamics, EarlyView.ABSTRACT Introduction
Pelvic organ prolapse is a common condition and many women seek surgical treatment for prolapse symptoms. However, recurrence of prolapse after surgical treatment is common. A think tank was held at ICI‐RS 2025 to discuss how the assessment and indifferent results from conservative and surgical management can be improved.Rohna Kearney, Adrian Wagg, Wendy Bower, Chris Chapple, Vik Khullar, Dudley Robinson, Annika Taithongchai, Philip Toozs Hobson, Alan Wein, Paul Abrams +9 morewiley +1 more source
