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Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant by Shen-Yang Lim, Tzi Shin Toh, Jia Wei Hor, Jia Lun Lim, Lei Cheng Lit, Azlina Ahmad-Annuar, Yi Wen Tay, Jia Nee Foo, Ebonne Yulin Ng, Kalai Arasu Muthusamy, Norlinah Mohamed Ibrahim, Khairul Azmi Ibrahim, Louis Chew Seng Tan, Jannah Zulkefli, Anis Nadhirah Khairul Anuar, Kirsten Black, Pawel Lis, Fei Xie, Zhidong Cen, Kai Shi Lim, Katja Lohmann, Shalini Padmanabhan, Dario R. Alessi, Wei Luo, Eng King Tan, Esther Sammler, Ai Huey Tan
Published 2025-02-01Get full text
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Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing by Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa deAlmeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann
Published 2025-08-01Get full text
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SLK is mutated in individuals with a neurodevelopmental disorderResearch in context by Lama Alabdi, Norah Altuwaijri, Jun-yi Zhu, Stephanie Efthymiou, Hangnoh Lee, Jianli Duan, Israa Salem, Piao Yu, Nor Linda Abdullah, Fatema Alzahrani, Qing Xu, Mashael M. Felemban, Abdullah Alfaifi, Fatima Rahman, Marilena Christoforou, Shazia Maqbool, Julian A. Martinez-Agosto, Hessa S. Alsaif, Mais Hashem, Rana Helaby, Ahood Alsulaiman, Reza Maroofian, Henry Houlden, Stefan T. Arold, Leena A. Ibrahim, Zhe Han, Fowzan S. Alkuraya, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa Ahmed Hamed, Mohamed A. Abd El Hamed, Samson Khachatryan, Ulviyya Guliyeva, Sughra Guliyeva, Kamran Salayev, Georgia Xiromerisiou, Liana Fidani, Cleanthe Spanaki, Mhammed Aguennouz, Gabriella Silvestri, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Abdullah Al-Ajmi, Shen-Yang Lim, Farooq Shaikh, Mohamed El Khorassani, Arn M.J.M. van den Maagdenberg, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Kolawole Wahab, Abiodun H. Bello, Sanni Abubakar, Yahaya Obiabo, Ernest Nwazor, Oluchi Ekenze, Uduak Williams, Alagoma Iyagba, Lolade Taiwo, Morenikeji Komolafe, Olapeju Oguntunde, Konstantin Senkevich, Ganieva Manizha, Maksud Isrofilov, Erin Torti, Maha Zaki, Hoda Tomoum, Amira Nabil, Paola Nicolaides, Shahzad Haider, Dana Hasbini, Chadi el Alam, Mona Huneineh, Faisal Zafar, Erum Afzal, Ilyas Muhammad, Atchayaram Nalini, Sofia Bakhtaze, Shahid Baig, Ben Issa, Chahnez Triki, Mussa Bassam, Dana Craiou, Meriem Tazir, Lamia Ali Patcha, Nebal Waill Saadi, Hanene Benrhouma, Payam Saraf, Khalid Hama Salih, Awatif
Published 2025-06-01Get full text
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