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Niccolò E. Mencacci
Northwestern University
45H指数
170论文数
9.0K被引数
收录论文 84
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Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank studySORL1是否是神经退行性疾病中常见的遗传靶点？一项多祖先来源生物银行研究.png)
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2026-05-26
0
OAAI
Marzieh Khani; Sheila N Yeboah; Catalina Cerquera-Cleves; Alexandra Kedmi; Bernabe I Bustos; Spencer M Grant; Suleyman Can Akerman; Fulya Akçimen; Paul Suhwan Lee; Paula Reyes-Pérez; Lara M Lange; Hampton Leonard; Mathew J Koretsky; Mary B Makarious; Zachary Schneider; Caroline Jonson; Pin-Shiuan Chen; Yi Wen Tay; Jeffrey D Rothstein; Chin-Hsien Lin; Shen-Yang Lim; Christine Klein; Kalpana Merchant; Niccolò E Mencacci; Dimitri Krainc; Mark R Cookson; Andrew Singleton; Sara Bandres-Ciga
BrainIF11.7
2026-05-260OAAIMarzieh Khani; Sheila N Yeboah; Catalina Cerquera-Cleves; Alexandra Kedmi; Bernabe I Bustos; Spencer M Grant; Suleyman Can Akerman; Fulya Akçimen; Paul Suhwan Lee; Paula Reyes-Pérez; Lara M Lange; Hampton Leonard; Mathew J Koretsky; Mary B Makarious; Zachary Schneider; Caroline Jonson; Pin-Shiuan Chen; Yi Wen Tay; Jeffrey D Rothstein; Chin-Hsien Lin; Shen-Yang Lim; Christine Klein; Kalpana Merchant; Niccolò E Mencacci; Dimitri Krainc; Mark R Cookson; Andrew Singleton; Sara Bandres-Ciga.png){kind=icon}
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收藏Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology全基因组评估揭示与帕金森病病因学潜在相关的纯合性模式祖先差异Movement Disorders2026-03-110
OAAIKathryn Step MSc; Carlos F. Hernández MD; Marzieh Khani PhD; Esraa Eltaraifee MD; Ana Jimena Hernández-Medrano MD; Pin-Jui Kung PhD; Miriam Ostrožovičová MD; Alexandra Zirra MBBS, MSc; Eduardo Pérez-Palma PhD; Niccolò E. Mencacci MD, PhD; Ignacio J. Keller Sarmiento MD; Huw R. Morris MD, PhD; Ignacio F. Mata PhD; Juliana Acosta-Uribe MD, PhD; Zih-Hua Fang PhD; Sara Bandres-Ciga PhD; the Global Parkinson's Genetics Program (GP2)
Movement DisordersIF7.6
2026-03-110OAAIKathryn Step MSc; Carlos F. Hernández MD; Marzieh Khani PhD; Esraa Eltaraifee MD; Ana Jimena Hernández-Medrano MD; Pin-Jui Kung PhD; Miriam Ostrožovičová MD; Alexandra Zirra MBBS, MSc; Eduardo Pérez-Palma PhD; Niccolò E. Mencacci MD, PhD; Ignacio J. Keller Sarmiento MD; Huw R. Morris MD, PhD; Ignacio F. Mata PhD; Juliana Acosta-Uribe MD, PhD; Zih-Hua Fang PhD; Sara Bandres-Ciga PhD; the Global Parkinson's Genetics Program (GP2)分享收藏Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease罕见但相关？评估帕金森病中与肌张力障碍相关基因的变异Movement Disorders2025-10-110OAAILara M. Lange MD; Zih-Hua Fang PhD; Laurel Screven PhD; Ai Huey Tan MD, PhD; Roy N. Alcalay MD; Rim Amouri PhD; Roberta Bovenzi MD; Matilda Fenn MSc; Joshua L.I. Frost MD; Joseph Jankovic MD; Simona Jasaityte MSc; Zane Jaunmuktane MD; Beomseok Jeon MD; Ignacio Juan Keller Sarmiento MD; Rejko Krüger MD; Gregor Kuhlenbäumer MD; Chin-Hsien Lin MD, PhD; Lukas Pavelka MD; Maria Teresa Periñan PhD; Samia Ben Sassi MD; Tommaso Schirinzi MD; Jung Hwan Shin MD; Joshua M. Shulman MD, PhD; Yi Wen Tay PhD; Ryan Uitti MD; Tom Warner MD, PhD; Zbigniew K. Wszolek MD; Lesley Wu MSc; Ruey-Meei Wu MD, PhD; Kirsten E. Zeuner MD; Cornelis Blauwendraat PhD; Andrew Singleton PhD; Niccolò E. Mencacci MD, PhD; Huw R. Morris MD, PhD; Shen-Yang Lim MD; Katja Lohmann PhD; Christine Klein MD; the Global Parkinson's Genetics Program (GP2)
Movement DisordersIF7.6
2025-10-110OAAILara M. Lange MD; Zih-Hua Fang PhD; Laurel Screven PhD; Ai Huey Tan MD, PhD; Roy N. Alcalay MD; Rim Amouri PhD; Roberta Bovenzi MD; Matilda Fenn MSc; Joshua L.I. Frost MD; Joseph Jankovic MD; Simona Jasaityte MSc; Zane Jaunmuktane MD; Beomseok Jeon MD; Ignacio Juan Keller Sarmiento MD; Rejko Krüger MD; Gregor Kuhlenbäumer MD; Chin-Hsien Lin MD, PhD; Lukas Pavelka MD; Maria Teresa Periñan PhD; Samia Ben Sassi MD; Tommaso Schirinzi MD; Jung Hwan Shin MD; Joshua M. Shulman MD, PhD; Yi Wen Tay PhD; Ryan Uitti MD; Tom Warner MD, PhD; Zbigniew K. Wszolek MD; Lesley Wu MSc; Ruey-Meei Wu MD, PhD; Kirsten E. Zeuner MD; Cornelis Blauwendraat PhD; Andrew Singleton PhD; Niccolò E. Mencacci MD, PhD; Huw R. Morris MD, PhD; Shen-Yang Lim MD; Katja Lohmann PhD; Christine Klein MD; the Global Parkinson's Genetics Program (GP2)分享收藏A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy一个RNF213基因的终止密码子获得型变异导致舞蹈症、卒中样发作和 Leigh 综合征样脑病。Movement Disorders2025-09-260OAAIRoberta Bovenzi MD; Mariasavina Severino MD; Jennifer Nichols MD; Fred Shen MD, PhD; Ignacio J. Keller Sarmiento MD; Bernabe I. Bustos PhD; Lisa Kinsley CGC; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD
Movement DisordersIF7.6
2025-09-260OAAIRoberta Bovenzi MD; Mariasavina Severino MD; Jennifer Nichols MD; Fred Shen MD, PhD; Ignacio J. Keller Sarmiento MD; Bernabe I. Bustos PhD; Lisa Kinsley CGC; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD分享收藏Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease成人发病型BPAN：一种模拟早发型帕金森病的非典型表现2025-08-230OAAIMariana H.G. Monje MD, PhD; Padmaja Vittal MD; Ignacio Juan Keller Sarmiento MD; Lisa Kinsley CGC; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD
2025-08-230OAAIMariana H.G. Monje MD, PhD; Padmaja Vittal MD; Ignacio Juan Keller Sarmiento MD; Lisa Kinsley CGC; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD分享收藏The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series与NUS1致病性变异相关的神经表型谱：一项综合性病例系列研究Annals of Neurology2025-07-010OAAISarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
Annals of NeurologyIF7.7
2025-07-010OAAISarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD分享收藏Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine新型同框FGF14缺失导致脊髓小脑共济失调27A型：对深部脑刺激和4-氨基吡啶的临床反应Movement Disorders2025-03-290OAAIIgnacio J. Keller Sarmiento MD; Roberta Bovenzi MD; Morgan Kinsinger; Lisa Kinsley MS; Bernabe I. Bustos PhD; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD
Movement DisordersIF7.6
2025-03-290OAAIIgnacio J. Keller Sarmiento MD; Roberta Bovenzi MD; Morgan Kinsinger; Lisa Kinsley MS; Bernabe I. Bustos PhD; Dimitri Krainc MD, PhD; Niccolò E. Mencacci MD, PhD分享收藏CLINICAL AND RADIOGRAPHIC IMPROVEMENT WITH REPLACEMENT OF FOLATE METABOLITES IN A PATIENT WITH INTRATHECAL METHOTREXATE-INDUCED MYELOPATHYNEURO-ONCOLOGY2024-11-110Kim, Hannah; May, Jasmine L.; Mencacci, Niccolo E.; Dixit, Karan S.
NEURO-ONCOLOGYIF13.4
2024-11-110PREAI
Kim, Hannah; May, Jasmine L.; Mencacci, Niccolo E.; Dixit, Karan S.分享收藏Parkinson's disease variant detection and disclosure: PD GENEration, a North American studyBRAIN2024-07-303OAAICook, Lola; Verbrugge, Jennifer; Schwantes-An, Tae-Hwi; Schulze, Jeanine; Foroud, Tatiana; Hall, Anne; Marder, Karen S.; Mata, Ignacio F.; Mencacci, Niccolo E.; Nance, Martha A.; Schwarzschild, Michael A.; Simuni, Tanya; Bressman, Susan; Wills, Anne-Marie; Fernandez, Hubert H.; Litvan, Irene; Lyons, Kelly E.; Shill, Holly A.; Singer, Carlos; Tropea, Thomas F.; Arroyave, Nora Vanegas; Carbonell, Janfreisy; Vicioso, Rossy Cruz; Katus, Linn; Quinn, Joseph F.; Hodges, Priscila D.; Meng, Yan; Strom, Samuel P.; Blauwendraat, Cornelis; Lohmann, Katja; Casaceli, Cynthia; Rao, Shilpa C.; Galvelis, Kamalini Ghosh; Naito, Anna; Beck, James C.; Alcalay, Roy N.
BRAINIF11.7
2024-07-303OAAICook, Lola; Verbrugge, Jennifer; Schwantes-An, Tae-Hwi; Schulze, Jeanine; Foroud, Tatiana; Hall, Anne; Marder, Karen S.; Mata, Ignacio F.; Mencacci, Niccolo E.; Nance, Martha A.; Schwarzschild, Michael A.; Simuni, Tanya; Bressman, Susan; Wills, Anne-Marie; Fernandez, Hubert H.; Litvan, Irene; Lyons, Kelly E.; Shill, Holly A.; Singer, Carlos; Tropea, Thomas F.; Arroyave, Nora Vanegas; Carbonell, Janfreisy; Vicioso, Rossy Cruz; Katus, Linn; Quinn, Joseph F.; Hodges, Priscila D.; Meng, Yan; Strom, Samuel P.; Blauwendraat, Cornelis; Lohmann, Katja; Casaceli, Cynthia; Rao, Shilpa C.; Galvelis, Kamalini Ghosh; Naito, Anna; Beck, James C.; Alcalay, Roy N.分享收藏Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global ScaleMOVEMENT DISORDERS2024-07-301OAAIJunker, Johanna; Lange, Lara M.; Vollstedt, Eva-Juliane; Roopnarain, Karisha; Doquenia, Maria Leila M.; Annuar, Azlina Ahmad; Avenali, Micol; Bardien, Soraya; Bahr, Natascha; Ellis, Melina; Galandra, Caterina; Gasser, Thomas; Heutink, Peter; Illarionova, Anastasia; Kanana, Yuliia; Sarmiento, Ignacio J. Keller; Kumar, Kishore R.; Lim, Shen-Yang; Madoev, Harutyun; Mata, Ignacio F.; Mencacci, Niccolo E.; Nalls, Mike A.; Padmanabhan, Shalini; Shambetova, Cholpon; Solle, J. C.; Tan, Ai-Huey; Trinh, Joanne; Valente, Enza Maria; Singleton, Andrew; Blauwendraat, Cornelis; Lohmann, Katja; Fang, Zih-Hua; Klein, Christine
MOVEMENT DISORDERSIF7.6
2024-07-301OAAIJunker, Johanna; Lange, Lara M.; Vollstedt, Eva-Juliane; Roopnarain, Karisha; Doquenia, Maria Leila M.; Annuar, Azlina Ahmad; Avenali, Micol; Bardien, Soraya; Bahr, Natascha; Ellis, Melina; Galandra, Caterina; Gasser, Thomas; Heutink, Peter; Illarionova, Anastasia; Kanana, Yuliia; Sarmiento, Ignacio J. Keller; Kumar, Kishore R.; Lim, Shen-Yang; Madoev, Harutyun; Mata, Ignacio F.; Mencacci, Niccolo E.; Nalls, Mike A.; Padmanabhan, Shalini; Shambetova, Cholpon; Solle, J. C.; Tan, Ai-Huey; Trinh, Joanne; Valente, Enza Maria; Singleton, Andrew; Blauwendraat, Cornelis; Lohmann, Katja; Fang, Zih-Hua; Klein, Christine分享收藏De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and SeizuresMOVEMENT DISORDERS2024-04-040OAAISarmiento, Ignacio J. Keller; Bustos, Bernabe I.; Blackburn, Joanna; Hac, Nicholas E. F.; Ruzhnikov, Maura; Monroe, Matthea; Levy, Rebecca J.; Kinsley, Lisa; Li, Megan; Silani, Vincenzo; Lubbe, Steven J.; Krainc, Dimitri; Mencacci, Niccolo E.
MOVEMENT DISORDERSIF7.6
2024-04-040OAAISarmiento, Ignacio J. Keller; Bustos, Bernabe I.; Blackburn, Joanna; Hac, Nicholas E. F.; Ruzhnikov, Maura; Monroe, Matthea; Levy, Rebecca J.; Kinsley, Lisa; Li, Megan; Silani, Vincenzo; Lubbe, Steven J.; Krainc, Dimitri; Mencacci, Niccolo E.分享收藏A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?GNAO1-Isolated肌张力障碍患者的一种snai1致病变异: 疾病严重程度的修饰因子？MOVEMENT DISORDERS2024-02-280OAAIMonje, Mariana H. G.; Blackburn, Joanna Sarah; Kinsley, Lisa; Krainc, Dimitri; Mencacci, Niccolo E.
MOVEMENT DISORDERSIF7.6
2024-02-280OAAIMonje, Mariana H. G.; Blackburn, Joanna Sarah; Kinsley, Lisa; Krainc, Dimitri; Mencacci, Niccolo E.分享收藏Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case ReportMOVEMENT DISORDERS2024-02-210OAAIDanti, Federica Rachele; Sarmiento, Ignacio Juan Keller; Moloney, Patrick B.; Colangelo, Isabel; Graziola, Federica; Garavaglia, Barbara; Zorzi, Giovanna; Mencacci, Niccolo E.; Lubbe, Steven J.
MOVEMENT DISORDERSIF7.6
2024-02-210OAAIDanti, Federica Rachele; Sarmiento, Ignacio Juan Keller; Moloney, Patrick B.; Colangelo, Isabel; Graziola, Federica; Garavaglia, Barbara; Zorzi, Giovanna; Mencacci, Niccolo E.; Lubbe, Steven J.分享收藏Multi-ancestry genome-wide association meta-analysis of Parkinson's disease帕金森病多血统全基因组关联meta分析NATURE GENETICS2023-12-2822OAAIKim, Jonggeol Jeffrey; Vitale, Dan; Otani, Diego Veliz; Lian, Michelle Mulan; Heilbron, Karl; Aslibekyan, Stella; Auton, Adam; Babalola, Elizabeth; Bell, Robert K.; Bielenberg, Jessica; Bryc, Katarzyna; Bullis, Emily; Cannon, Paul; Coker, Daniella; Partida, Gabriel Cuellar; Dhamija, Devika; Das, Sayantan; Elson, Sarah L.; Eriksson, Nicholas; Filshtein, Teresa; Fitch, Alison; Fletez-Brant, Kipper; Fontanillas, Pierre; Freyman, Will; Granka, Julie M.; Hernandez, Alejandro; Hicks, Barry; Hinds, David A.; Jewett, Ethan M.; Jiang, Yunxuan; Kukar, Katelyn; Kwong, Alan; Lin, Keng-Han; Llamas, Bianca A.; Lowe, Maya; McCreight, Jey C.; McIntyre, Matthew H.; Micheletti, Steven J.; Moreno, Meghan E.; Nandakumar, Priyanka; Nguyen, Dominique T.; Noblin, Elizabeth S.; O'Connell, Jared; Petrakovitz, Aaron A.; Poznik, G. David; Reynoso, Alexandra; Schloetter, Madeleine; Schumacher, Morgan; Shastri, Anjali J.; Shelton, Janie F.; Shi, Jingchunzi; Shringarpure, Suyash; Su, Qiaojuan Jane; Tat, Susana A.; Tchakoute, Christophe Toukam; Tran, Vinh; Tung, Joyce Y.; Wang, Xin; Wang, Wei; Weldon, Catherine H.; Wilton, Peter; Wong, Corinna D.; Iwaki, Hirotaka; Lake, Julie; Solsberg, Caroline Warly; Leonard, Hampton; Makarious, Mary B.; Tan, Eng-King; Singleton, Andrew B.; Bandres-Ciga, Sara; Noyce, Alastair J.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Renteria, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozc, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Hoglinger, Gunter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Divya, K. P.; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krueger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Perez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrom, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Veliz-Otani, Diego; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Al Mubarak, Bashayer; Umair, Muhammad; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Perinan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Brolin, Kajsa; Zweier, Christiane; Tinkhauser, Gerd; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Ben Sassi, Samia; Basak, A. Nazl; Genc, Gencer; Cakmak, Ozguer Oztop; Ertan, Sibel; Martinez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaityte, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O'Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolo Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Blauwendraat, Cornelis; Nalls, Mike A.; Foo, Jia Nee; Mata, Ignacio
NATURE GENETICSIF31.8
2023-12-2822OAAIKim, Jonggeol Jeffrey; Vitale, Dan; Otani, Diego Veliz; Lian, Michelle Mulan; Heilbron, Karl; Aslibekyan, Stella; Auton, Adam; Babalola, Elizabeth; Bell, Robert K.; Bielenberg, Jessica; Bryc, Katarzyna; Bullis, Emily; Cannon, Paul; Coker, Daniella; Partida, Gabriel Cuellar; Dhamija, Devika; Das, Sayantan; Elson, Sarah L.; Eriksson, Nicholas; Filshtein, Teresa; Fitch, Alison; Fletez-Brant, Kipper; Fontanillas, Pierre; Freyman, Will; Granka, Julie M.; Hernandez, Alejandro; Hicks, Barry; Hinds, David A.; Jewett, Ethan M.; Jiang, Yunxuan; Kukar, Katelyn; Kwong, Alan; Lin, Keng-Han; Llamas, Bianca A.; Lowe, Maya; McCreight, Jey C.; McIntyre, Matthew H.; Micheletti, Steven J.; Moreno, Meghan E.; Nandakumar, Priyanka; Nguyen, Dominique T.; Noblin, Elizabeth S.; O'Connell, Jared; Petrakovitz, Aaron A.; Poznik, G. David; Reynoso, Alexandra; Schloetter, Madeleine; Schumacher, Morgan; Shastri, Anjali J.; Shelton, Janie F.; Shi, Jingchunzi; Shringarpure, Suyash; Su, Qiaojuan Jane; Tat, Susana A.; Tchakoute, Christophe Toukam; Tran, Vinh; Tung, Joyce Y.; Wang, Xin; Wang, Wei; Weldon, Catherine H.; Wilton, Peter; Wong, Corinna D.; Iwaki, Hirotaka; Lake, Julie; Solsberg, Caroline Warly; Leonard, Hampton; Makarious, Mary B.; Tan, Eng-King; Singleton, Andrew B.; Bandres-Ciga, Sara; Noyce, Alastair J.; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Renteria, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozc, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Hoglinger, Gunter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergiu; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Divya, K. P.; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Krueger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Perez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrom, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Veliz-Otani, Diego; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Al Mubarak, Bashayer; Umair, Muhammad; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Perinan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Brolin, Kajsa; Zweier, Christiane; Tinkhauser, Gerd; Krack, Paul; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Yihru; Amouri, Rim; Ben Sassi, Samia; Basak, A. Nazl; Genc, Gencer; Cakmak, Ozguer Oztop; Ertan, Sibel; Martinez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaityte, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O'Grady, Alyssa; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Ibanez, Laura; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Koretsky, Mathew; Puckelwartz, Megan J.; Inca-Martinez, Miguel; Louie, Naomi; Mencacci, Niccolo Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Nguyen, Duan; Nguyen, Toan; Atadzhanov, Masharip; Blauwendraat, Cornelis; Nalls, Mike A.; Foo, Jia Nee; Mata, Ignacio分享收藏Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neuronsNEURON2023-12-0120Song, Pingping; Peng, Wesley; Sauve, Veronique; Fakih, Rayan; Xie, Zhong; Ysselstein, Daniel; Krainc, Talia; Wong, Yvette C.; Mencacci, Niccolo E.; Savas, Jeffrey N.; Surmeier, D. James; Gehring, Kalle; Krainc, Dimitri
NEURONIF15
2023-12-0120PREAI
Song, Pingping; Peng, Wesley; Sauve, Veronique; Fakih, Rayan; Xie, Zhong; Ysselstein, Daniel; Krainc, Talia; Wong, Yvette C.; Mencacci, Niccolo E.; Savas, Jeffrey N.; Surmeier, D. James; Gehring, Kalle; Krainc, Dimitri分享收藏The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list肌阵挛-肌张力障碍综合征不断扩大的遗传景观: YY1和ATP1A3被添加到列表中2023-12-012Brooker, Sarah M.; Mencacci, Niccolo E.
2023-12-012PREAI
Brooker, Sarah M.; Mencacci, Niccolo E.分享收藏Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and DopamineMOVEMENT DISORDERS2023-11-142OAAIIndelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane; Zech, Michael
MOVEMENT DISORDERSIF7.6
2023-11-142OAAIIndelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane; Zech, Michael分享收藏Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2) (vol 9, 100, 2023)在全球帕金森遗传学计划 (GP2) 中阐明遗传性帕金森病的致病基因变异 (第9卷，100，2023)2023-09-130OAAILange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Sarmiento, Ignacio J. Keller; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Renteria, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Hoglinger, Gunter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergio; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Kruger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Perez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrom, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Al Mubarak, Bashayer; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Perinan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Paul, Krack; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Serena; Wu, Yihru; Amouri, Rim; Ben Sassi, Samia; Basak, A. Nazl; Genc, Gencer; Cakmak, Ozgur Oztop; Ertan, Sibel; Noyce, Alastair; Martinez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O'Grady, Alyssa; Singleton, Andrew B.; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Blauwendraat, Cornelis; Vitale, Dan; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Leonard, Hampton; Iwaki, Hirotaka; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Makarious, Mary B.; Koretsky, Mathew; Inca-Martinez, Miguel; Nalls, Mike A.; Louie, Naomi; Mencacci, Niccolo Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Duan Nguyen; Toan Nguyen; Atadzhanov, Masharip
2023-09-130OAAILange, Lara M.; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Sarmiento, Ignacio J. Keller; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R.; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine; Gatto, Emilia M.; Kauffman, Marcelo; Khachatryan, Samson; Tavadyan, Zaruhi; Shepherd, Claire E.; Hunter, Julie; Kumar, Kishore; Ellis, Melina; Renteria, Miguel E.; Koks, Sulev; Zimprich, Alexander; Schumacher-Schuh, Artur F.; Rieder, Carlos; Awad, Paula Saffie; Tumas, Vitor; Camargos, Sarah; Fon, Edward A.; Monchi, Oury; Fon, Ted; Galleguillos, Benjamin Pizarro; Miranda, Marcelo; Bustamante, Maria Leonor; Olguin, Patricio; Chana, Pedro; Tang, Beisha; Shang, Huifang; Guo, Jifeng; Chan, Piu; Luo, Wei; Arboleda, Gonzalo; Orozco, Jorge; del Rio, Marlene Jimenez; Hernandez, Alvaro; Salama, Mohamed; Kamel, Walaa A.; Zewde, Yared Z.; Brice, Alexis; Corvol, Jean-Christophe; Westenberger, Ana; Illarionova, Anastasia; Mollenhauer, Brit; Klein, Christine; Vollstedt, Eva-Juliane; Hopfner, Franziska; Hoglinger, Gunter; Madoev, Harutyun; Trinh, Joanne; Junker, Johanna; Lohmann, Katja; Lange, Lara M.; Sharma, Manu; Groppa, Sergio; Gasser, Thomas; Fang, Zih-Hua; Akpalu, Albert; Xiromerisiou, Georgia; Hadjigorgiou, Georgios; Dagklis, Ioannis; Tarnanas, Ioannis; Stefanis, Leonidas; Stamelou, Maria; Dadiotis, Efthymios; Medina, Alex; Chan, Germaine Hiu-Fai; Ip, Nancy; Cheung, Nelson Yuk-Fai; Chan, Phillip; Zhou, Xiaopu; Kishore, Asha; Kp, Divya; Pal, Pramod; Kukkle, Prashanth Lingappa; Rajan, Roopa; Borgohain, Rupam; Salari, Mehri; Quattrone, Andrea; Valente, Enza Maria; Parnetti, Lucilla; Avenali, Micol; Schirinzi, Tommaso; Funayama, Manabu; Hattori, Nobutaka; Shiraishi, Tomotaka; Karimova, Altynay; Kaishibayeva, Gulnaz; Shambetova, Cholpon; Kruger, Rejko; Tan, Ai Huey; Ahmad-Annuar, Azlina; Norlinah, Mohamed Ibrahim; Murad, Nor Azian Abdul; Ibrahim, Norlinah Mohamed; Azmin, Shahrul; Lim, Shen-Yang; Mohamed, Wael; Tay, Yi Wen; Martinez-Ramirez, Daniel; Rodriguez-Violante, Mayela; Reyes-Perez, Paula; Tserensodnom, Bayasgalan; Ojha, Rajeev; Anderson, Tim J.; Pitcher, Toni L.; Sanyaolu, Arinola; Okubadejo, Njideka; Ojo, Oluwadamilola; Aasly, Jan O.; Pihlstrom, Lasse; Tan, Manuela; Ur-Rehman, Shoaib; Cornejo-Olivas, Mario; Doquenia, Maria Leila; Rosales, Raymond; Vinuela, Angel; Iakovenko, Elena; Al Mubarak, Bashayer; Umair, Muhammad; Tan, Eng-King; Foo, Jia Nee; Amod, Ferzana; Carr, Jonathan; Bardien, Soraya; Jeon, Beomseok; Kim, Yun Joong; Cubo, Esther; Alvarez, Ignacio; Hoenicka, Janet; Beyer, Katrin; Perinan, Maria Teresa; Pastor, Pau; El-Sadig, Sarah; Zweier, Christiane; Paul, Krack; Lin, Chin-Hsien; Wu, Hsiu-Chuan; Kung, Pin-Jui; Wu, Ruey-Meei; Wu, Serena; Wu, Yihru; Amouri, Rim; Ben Sassi, Samia; Basak, A. Nazl; Genc, Gencer; Cakmak, Ozgur Oztop; Ertan, Sibel; Noyce, Alastair; Martinez-Carrasco, Alejandro; Schrag, Anette; Schapira, Anthony; Carroll, Camille; Bale, Claire; Grosset, Donald; Stafford, Eleanor J.; Houlden, Henry; Morris, Huw R.; Hardy, John; Mok, Kin Ying; Rizig, Mie; Wood, Nicholas; Williams, Nigel; Okunoye, Olaitan; Lewis, Patrick Alfryn; Kaiyrzhanov, Rauan; Weil, Rimona; Love, Seth; Stott, Simon; Jasaitye, Simona; Dey, Sumit; Obese, Vida; Espay, Alberto; O'Grady, Alyssa; Singleton, Andrew B.; Sobering, Andrew K.; Siddiqi, Bernadette; Casey, Bradford; Fiske, Brian; Jonas, Cabell; Cruchaga, Carlos; Pantazis, Caroline B.; Comart, Charisse; Wegel, Claire; Blauwendraat, Cornelis; Vitale, Dan; Hall, Deborah; Hernandez, Dena; Shiamim, Ejaz; Riley, Ekemini; Faghri, Faraz; Serrano, Geidy E.; Leonard, Hampton; Iwaki, Hirotaka; Chen, Honglei; Mata, Ignacio F.; Sarmiento, Ignacio Juan Keller; Williamson, Jared; Kim, Jonggeol Jeff; Jankovic, Joseph; Shulman, Joshua; Solle, Justin C.; Murphy, Kaileigh; Nuytemans, Karen; Kieburtz, Karl; Markopoulou, Katerina; Marek, Kenneth; Levine, Kristin S.; Chahine, Lana M.; Screven, Laurel; Ruffrage, Lauren; Shulman, Lisa; Marsili, Luca; Kuhl, Maggie; Dean, Marissa; Makarious, Mary B.; Koretsky, Mathew; Inca-Martinez, Miguel; Nalls, Mike A.; Louie, Naomi; Mencacci, Niccolo Emanuele; Albin, Roger; Alcalay, Roy; Walker, Ruth; Bandres-Ciga, Sara; Chowdhury, Sohini; Dumanis, Sonya; Lubbe, Steven; Xie, Tao; Foroud, Tatiana; Beach, Thomas; Sherer, Todd; Song, Yeajin; Duan Nguyen; Toan Nguyen; Atadzhanov, Masharip分享收藏Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders双等位基因MED27变体导致运动障碍的可变脑-小脑-变性BRAIN2023-07-303OAAIMaroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina
BRAINIF11.7
2023-07-303OAAIMaroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina分享收藏Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation DysfunctionMOVEMENT DISORDERS2023-07-233OAAIHarrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael
MOVEMENT DISORDERSIF7.6
2023-07-233OAAIHarrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane; Zech, Michael分享收藏