.png){kind=icon}
N
Niccolò E. Mencacci
northwestern universityH指数:45
被引数:9,117
个人简介
暂无内容
教育背景
暂无内容
工作经历
暂无内容
荣誉奖项
暂无内容
- 发表时间最新
- IF最高
- 被引数最高
<scp> <i>GCH1</i> </scp> p. <scp>Ser80Asn</scp> 增加东亚人群患帕金森病的风险
Movement Disorders
IF7.6
2026-10-140
OA
Yi Wen Tay; Andrew Leslie Lee; Jie Ping Schee; Chin‐Hsien Lin; Eng King Tan; Jung Hwan Shin; Pin‐Shiuan Chen; Sung‐Pin Fan; Cheng‐Hsuan Li; Ebonne Yu Lin Ng; Han Joon Kim; Beomseok Jeon; Sulev Koks; Huyen Thi Thanh Vu; Kin Ying Mok; Yi Ting Lim; Mohd Salahuddin Kamaruddin; Tzi Shin Toh; Hans Xing Ding; Anis Nadhirah Khairul Anuar; Norlisah Ramli; Ignacio J. Keller Sarmiento; Maria Teresa Periñan; Zih‐Hua Fang; Lara M. Lange; Kishore R. Kumar; Soraya Bardien; Joanne Trinh; Enza Maria Valente; SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2); Peter Heutink; Katja Lohmann; Christine Klein; Niccolò E. Mencacci; Shen‐Yang Lim; Azlina Ahmad‐Annuar; Ai Huey Tan
SORL1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
Brain
IF11.7
2026-05-260
OA
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
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 Disorders
IF7.6
2026-03-110
OAAI
Kathryn 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)
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 Disorders
IF7.6
2025-10-110
OAAI
Lara 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)
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 Disorders
IF7.6
2025-09-260
OAAI
Roberta 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
成人发病型BPAN：一种模拟早发型帕金森病的非典型表现
2025-08-230
OAAI
Mariana 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
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 Neurology
IF7.7
2025-07-010
OAAI
Sarah 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
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 Disorders
IF7.6
2025-03-290
OAAI
Ignacio 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
NEURO-ONCOLOGY
IF13.4
2024-11-110
PRE
Kim, Hannah; May, Jasmine L.; Mencacci, Niccolo E.; Dixit, Karan S.
BRAIN
IF11.7
2024-07-303
OAAI
Cook, 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.
MOVEMENT DISORDERS
IF7.6
2024-07-301
OA
Junker, 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 DISORDERS
IF7.6
2024-04-040
OA
Sarmiento, 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.
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 DISORDERS
IF7.6
2024-02-280
OA
Monje, Mariana H. G.; Blackburn, Joanna Sarah; Kinsley, Lisa; Krainc, Dimitri; Mencacci, Niccolo E.
MOVEMENT DISORDERS
IF7.6
2024-02-210
OA
Danti, Federica Rachele; Sarmiento, Ignacio Juan Keller; Moloney, Patrick B.; Colangelo, Isabel; Graziola, Federica; Garavaglia, Barbara; Zorzi, Giovanna; Mencacci, Niccolo E.; Lubbe, Steven J.
帕金森病多血统全基因组关联meta分析
NATURE GENETICS
IF31.8
2023-12-2822
OAAI
Kim, 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
NEURON
IF15
2023-12-0120
PRE
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
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
2023-12-012
PRE
Brooker, Sarah M.; Mencacci, Niccolo E.
MOVEMENT DISORDERS
IF7.6
2023-11-142
OAAI
Indelicato, Elisabetta; Boesch, Sylvia; Mencacci, Niccolo; Ghezzi, Daniele; Prokisch, Holger; Winkelmann, Juliane; Zech, Michael
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)
2023-09-130
OAAI
Lange, 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
双等位基因MED27变体导致运动障碍的可变脑-小脑-变性
BRAIN
IF11.7
2023-07-303
OAAI
Maroofian, 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
研究方向
暂未获取到该数据
- 合作次数
- H指数
- 论文数
- 被引数