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Birgitt Schüle

stanford university school of medicine

42H指数
146论文数
7.9K被引数
收录论文 33
发表时间
Toward the clinical application of long-read sequencing in repeat-expansion disorders长读测序在重复序列扩增疾病中的临床应用展望
err2026-08-20
err0
PREAI
errLouise Benarroch; Jovan Pešović; Marzia Rossato; Zhongbo Chen; Morghan C. Lucas; Guillaume Cogan; Indhu-Shree Rajan-Babu; Vitus Prokosch; Christina Zarouchlioti; Marco Carlomagno; Ida Höijer; Mayra Sauer; Ismail Jamail; Shota Shibata; Glen Lester Sequiera; Benjamin P. Kleinstiver; Sonia Lameiras; Ricardo Mouro Pinto; Giuseppe Novelli; Davina Hensman Moss; Natalia Dominik; Mathieu Barbier; Isabelle Le Ber; Guillaume Bassez; Denis Furling; Massimo Delledonne; Karen Usdin; Sylvain Baulande; Geneviève Gourdon; Birgitt Schüle; Dušanka Savić-Pavićević; Annalisa Botta; Alice E. Davidson; Adam Ameur; Vincent Dion; Stéphanie Tomé
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Functional connectivity alterations in spinocerebellar ataxia type 10: insights from gray matter atrophy脊髓小脑共济失调10型的功能连接改变:来自灰质萎缩的见解
err2026-02-07
err1
errOAAI
errPadron-Rivera, Gustavo; Ramirez-garcia, Gabriel; Chirino-perez, Amanda; Romero-Molina, Angel Omar; Ochoa-Morales, Adriana; Garcia-Gomar, Maria Guadalupe; Ramirez-garcia, Miguel Angel; Rodriguez-Mendoza, Omar; Torres-Vences, Diana Laura; Schule, Birgitt; Pasaye-Alcaraz, Erick Humberto; Hernandez-Castillo, Carlos Roberto; Fernandez-ruiz, Juan
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Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers
err2025-02-19
err0
PREAI
errCarricarte Naranjo, Claudia; Marras, Connie; Visanji, Naomi P.; Cornforth, David J.; Sanchez-Rodriguez, Lazaro; Schule, Birgitt; Goldman, Samuel M.; Estevez, Mario; Stein, Phyllis K.; Jelinek, Herbert F.; Lang, Anthony E.; Machado, Andres
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Alpha-Synuclein Gene Alterations Modulate Tyrosine Hydroxylase in Human iPSC-Derived Neurons in a Parkinson's Disease Animal Model
err2024-06-05
err1
errOAAI
errBernal-Conde, Luis Daniel; Pena-Martinez, Veronica; Morato-Torres, C. Alejandra; Ramos-Acevedo, Rodrigo; Arias-Carrion, Oscar; Padilla-Godinez, Francisco J.; Delgado-Gonzalez, Alexa; Palomero-Rivero, Marcela; Collazo-Navarrete, Omar; Soto-Rojas, Luis O.; Gomez-Chavarin, Margarita; Schule, Birgitt; Guerra-Crespo, Magdalena
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Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson's disease
err2023-10-18
err4
errOAAI
errSastre, Danuta; Zafar, Faria; Torres, C. Alejandra Morato; Piper, Desiree; Kirik, Deniz; Sanders, Laurie H.; Qi, L. Stanley; Schule, Birgitt
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A reference human induced pluripotent stem cell line for collaborative studies用于合作研究的参考人类诱导多能干细胞系
err2022-12-01
err63
errOAAI
errPantazis, Caroline B.; Yang, Andrian; Lara, Erika; McDonough, Justin A.; Blauwendraat, Cornelis; Peng, Lirong; Oguro, Hideyuki; Kanaujiya, Jitendra; Zou, Jizhong; Sebesta, David; Pratt, Gretchen; Cross, Erin; Blockwick, Jeffrey; Buxton, Philip; Kinner-Bibeau, Lauren; Medura, Constance; Tompkins, Christopher; Hughes, Stephen; Santiana, Marianita; Faghri, Faraz; Nalls, Mike A.; Vitale, Daniel; Ballard, Shannon; Qi, Yue A.; Ramos, Daniel M.; Anderson, Kailyn M.; Stadler, Julia; Narayan, Priyanka; Papademetriou, Jason; Reilly, Luke; Nelson, Matthew P.; Aggarwal, Sanya; Rosen, Leah U.; Kirwan, Peter; Pisupati, Venkat; Coon, Steven L.; Scholz, Sonja W.; Priebe, Theresa; Ottl, Miriam; Dong, Jian; Meijer, Marieke; Janssen, Lara J. M.; Lourenco, Vanessa S.; van der Kant, Rik; Crusius, Dennis; Paquet, Dominik; Raulin, Ana-Caroline; Bu, Guojun; Held, Aaron; Wainger, Brian J.; Gabriele, Rebecca M. C.; Casey, Jackie M.; Wray, Selina; Abu-Bonsrah, Dad; Parish, Clare L.; Beccari, Melinda S.; Cleveland, Don W.; Li, Emmy; Rose, Indigo V. L.; Kampmann, Martin; Aristoy, Carles Calatayud; Verstreken, Patrik; Heinrich, Laurin; Chen, Max Y.; Schule, Birgitt; Dou, Dan; Holzbaur, Erika L. F.; Zanellati, Maria Clara; Basundra, Richa; Deshmukh, Mohanish; Cohen, Sarah; Khanna, Richa; Raman, Malavika; Nevin, Zachary S.; Matia, Madeline; Van Lent, Jonas; Timmerman, Vincent; Conklin, Bruce R.; Chase, Katherine Johnson; Zhang, Ke; Funes, Salome; Bosco, Daryl A.; Erlebach, Lena; Welzer, Marc; Kronenberg-Versteeg, Deborah; Lyu, Guochang; Arenas, Ernest; Coccia, Elena; Sarrafha, Lily; Ahfeldt, Tim; Marioni, John C.; Skarnes, William C.; Cookson, Mark R.; Ward, Michael E.; Merkle, Florian T.
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Early embryonic lethality in complex I associated p.L104PNubpl mutant mice
err2022-10-24
err3
errOAAI
errCheng, Cheng; Cleak, James; Weiss, Lan; Cater, Heather; Stewart, Michelle; Wells, Sara; Columbres, Rod Carlo; Shmara, Alyaa; Morato Torres, C. Alejandra; Zafar, Faria; Schule, Birgitt; Neumann, Jonathan; Hatchwell, Eli; Kimonis, Virginia
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ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10ATXN10基因中的ATTCT和ATTCC重复扩增影响10型脊髓小脑性共济失调的疾病外显率
err2022-10-01
err19
errOAAI
errTorres, C. Alejandra Morato; Zafar, Faria; Tsai, Yu-Chih; Vazquez, Jocelyn Palafox; Gallagher, Michael D.; McLaughlin, Ian; Hong, Karl; Lai, Jill; Lee, Joyce; Chirino-Perez, Amanda; Romero-Molina, Angel Omar; Torres, Francisco; Fernandez-Ruiz, Juan; Ashizawa, Tetsuo; Ziegle, Janet; Gil, Francisco Javier Jimenez; Schule, Birgitt
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Effect of LRRK2 protein and activity on stimulated cytokines in human monocytes and macrophages
err2022-03-28
err24
errOAAI
errRastegar, Diba Ahmadi; Hughes, Laura P.; Perera, Gayathri; Keshiya, Shikara; Zhong, Siying; Gao, Jianqun; Halliday, Glenda M.; Schule, Birgitt; Dzamko, Nicolas
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Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
err2022-01-12
err0
errOAAI
errNapolioni, Valerio; Fredericks, Carolyn A.; Kim, Yongha; Channappa, Divya; Khan, Raiyan R.; Kim, Lily H.; Zafar, Faria; Couthouis, Julien; Davidzon, Guido A.; Mormino, Elizabeth C.; Gitler, Aaron D.; Montine, Thomas J.; Schule, Birgitt; Greicius, Michael D.
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Short-term deceleration capacity of heart rate: a sensitive marker of cardiac autonomic dysfunction in idiopathic Parkinson's disease
err2021-07-12
err10
PREAI
errCarricarte Naranjo, Claudia; Marras, Connie; Visanji, Naomi P.; Cornforth, David J.; Sanchez-Rodriguez, Lazaro; Schule, Birgitt; Goldman, Samuel M.; Estevez, Mario; Stein, Phyllis K.; Lang, Anthony E.; Jelinek, Herbert F.; Machado, Andres
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Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease
err2021-05-17
err27
errOAAI
errLai, Dongbing; Alipanahi, Babak; Fontanillas, Pierre; Schwantes-An, Tae-Hwi; Aasly, Jan; Alcalay, Roy N.; Beecham, Gary W.; Berg, Daniela; Bressman, Susan; Brice, Alexis; Brockman, Kathrin; Clark, Lorraine; Cookson, Mark; Das, Sayantan; Van Deerlin, Vivianna; Follett, Jordan; Farrer, Matthew J.; Trinh, Joanne; Gasser, Thomas; Goldwurm, Stefano; Gustavsson, Emil; Klein, Christine; Lang, Anthony E.; Langston, J. William; Latourelle, Jeanne; Lynch, Timothy; Marder, Karen; Marras, Connie; Martin, Eden R.; McLean, Cory Y.; Mejia-Santana, Helen; Molho, Eric; Myers, Richard H.; Nuytemans, Karen; Ozelius, Laurie; Payami, Haydeh; Raymond, Deborah; Rogaeva, Ekaterina; Rogers, Michael P.; Ross, Owen A.; Samii, Ali; Saunders-Pullman, Rachel; Schule, Birgitt; Schulte, Claudia; Scott, William K.; Tanner, Caroline; Tolosa, Eduardo; Tomkins, James E.; Vilas, Dolores; Trojanowski, John Q.; Uitti, Ryan; Vance, Jeffery M.; Visanji, Naomi P.; Wszolek, Zbigniew K.; Zabetian, Cyrus P.; Mirelman, Anat; Giladi, Nir; Orr Urtreger, Avi; Cannon, Paul; Fiske, Brian; Foroud, Tatiana
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Nonsteroidal Anti-Inflammatory Use and LRRK2 Parkinson's Disease Penetrance
err2020-07-14
err63
errOAAI
errSan Luciano, Marta; Tanner, Caroline M.; Meng, Cheryl; Marras, Connie; Goldman, Samuel M.; Lang, Anthony E.; Tolosa, Eduardo; Schule, Birgitt; Langston, J. William; Brice, Alexis; Corvol, Jean-Christophe; Goldwurm, Stefano; Klein, Christine; Brockman, Simone; Berg, Daniela; Brockmann, Kathrin; Ferreira, Joachim J.; Tazir, Meriem; Mellick, George D.; Sue, Carolyn M.; Hasegawa, Kazuko; Tan, Eng King; Bressman, Susan; Saunders-Pullman, Rachel
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Increased markers of cardiac vagal activity in leucine-rich repeat kinase 2-associated Parkinson's disease
err2019-08-23
err12
PREAI
errCarricarte Naranjo, Claudia; Marras, Connie; Visanji, Naomi P.; Cornforth, David J.; Sanchez-Rodriguez, Lazaro; Schule, Birgitt; Goldman, Samuel M.; Estevez, Mario; Stein, Phyllis K.; Lang, Anthony E.; Jelinek, Herbert F.; Machado, Andres
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LRRK2 modifies α-syn pathology and spread in mouse models and human neurons
err2019-03-29
err145
errOAAI
errBieri, Gregor; Brahic, Michel; Bousset, Luc; Couthouis, Julien; Kramer, Nicholas J.; Ma, Rosanna; Nakayama, Lisa; Monbureau, Marie; Defensor, Erwin; Schuele, Birgitt; Shamloo, Mehrdad; Melki, Ronald; Gitler, Aaron D.
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LRRK2-mediated Rab10 phosphorylation in immune cells from Parkinson's disease patients
err2018-12-30
err75
PREAI
errAtashrazm, Farzaneh; Hammond, Deborah; Perera, Gayathri; Bolliger, Marc F.; Matar, Elie; Halliday, Glenda M.; Schule, Birgitt; Lewis, Simon J. G.; Nichols, R. Jeremy; Dzamko, Nicolas
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A pathway for Parkinson's Disease LRRK2 kinase to block primary cilia and Sonic hedgehog signaling in the brain
err2018-11-06
err162
errOAAI
errDhekne, Herschel S.; Yanatori, Izumi; Gomez, Rachel C.; Tonelli, Francesca; Diez, Federico; Schule, Birgitt; Steger, Martin; Alessi, Dario R.; Pfeffer, Suzanne R.
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Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson's disease
err2018-06-15
err32
errOAAI
errZafar, Faria; Valappil, Ruksana Azhu; Kim, Sam; Johansen, Krisztina K.; Chang, Anne Lynn S.; Tetrud, James W.; Eis, Peggy S.; Hatchwell, Eli; Langston, J. William; Dickson, Dennis W.; Schule, Birgitt
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Clustering of Motor and Nonmotor Traits in Leucine-Rich Repeat Kinase 2 G2019S Parkinson's Disease Nonparkinsonian Relatives: A Multicenter Family Study
err2018-04-17
err10
PREAI
errMestre, Tiago A.; Pont-Sunyer, Claustre; Kausar, Farah; Visanji, Naomi P.; Ghate, Taneera; Connolly, Barbara S.; Gasca-Salas, Carmen; Kern, Drew S.; Jain, Jennifer; Slow, Elizabeth J.; Faust-Socher, Achinoam; Kasten, Meike; Wadia, Pettarusp M.; Zadikoff, Cindy; Kumar, Prakash; de Bie, Ronald M.; Thomsen, Teri; Lang, Anthony E.; Schule, Birgitt; Klein, Christine; Tolosa, Eduardo; Marras, Connie
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LRRK2 p. Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy
err2018-02-17
err17
PREAI
errLee, Kelsey; Khanh-Dung Nguyen; Sun, Chao; Liu, Mei; Zafar, Faria; Saetern, Jimmy; Flierl, Adrian; Tetrud, James W.; Langston, J. William; Dickson, Dennis; Schule, Birgitt
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