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Stéphanie Baulac

Sorbonne Universite and Inserm and CNRS and APHP

53H指数
150论文数
1.1W被引数
收录论文 68
发表时间
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiessnRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
err分享
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Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 deletion镶嵌人脑皮层类器官通过DEPDC5基因缺失模拟mTOR相关局灶性皮层发育不良
errBrain
IF11.7
err2026-03-06
err0
errOAAI
errMarina Maletic; Sara Bizzotto; Théo Ribierre; Kenza Guerdoud; Corentin Raoux; Marion Doladilhe; Carine Dalle; Fabienne Picard; Stéphanie Baulac; null
err分享
err收藏
DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46DEPDC5通过与其与泛素特异性蛋白酶46相互作用来调节兴奋性突触传递的强度。
errNeurobiology of Disease
IF5.6
err2025-06-02
err0
errOAAI
errMaria Sabina Cerullo; Caterina Canevari; Antonella Marte; Alexandre Bacq; Antonio De Fusco; Marina Maletic; Stéphanie Baulac; Fabio Benfenati
err分享
err收藏
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
errNATURE COMMUNICATIONS
IF15.7
err2024-11-30
err0
errOAAI
errBosselmann, Christian M.; Leu, Costin; Bruenger, Tobias; Hoffmann, Lucas; Baldassari, Sara; Chipaux, Mathilde; Coras, Roland; Kobow, Katja; Hamer, Hajo; Delev, Daniel; Roessler, Karl; Bien, Christian G.; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Becker, Kerstin; Ferguson, Lisa; Busch, Robyn M.; Baulac, Stephanie; Nuernberg, Peter; Najm, Imad; Bluemcke, Ingmar; Lal, Dennis
err分享
err收藏
WONOEP appraisal: Targeted therapy development for early onset epilepsiesWONOEP评估: 针对早发性癫痫的靶向治疗开发
errEPILEPSIA
IF6.6
err2024-11-19
err0
errOAAI
errCasillas-Espinosa, Pablo M.; Wong, Jennifer C.; Grabon, Wanda; Gonzalez-Ramos, Ana; Mantegazza, Massimo; Yilmaz, Nihan Carcak; Patel, Manisha; Staley, Kevin; Sankar, Raman; O'Brien, Terence J.; Akman, Ozlem; Balagura, Ganna; Numis, Adam L.; Noebels, Jeffrey L.; Baulac, Stephanie; Auvin, Stephane; Henshall, David C.; Galanopoulou, Aristea S.
err分享
err收藏
Somatic variant analysis of resected brain tissue in epilepsy surgery patients癫痫手术患者切除脑组织的体细胞变异分析
errEPILEPSIA
IF6.6
err2024-10-26
err2
errOAAI
errSanders, Maurits W. C. B.; Koeleman, Bobby P. C.; Brilstra, Eva H.; Jansen, Floor E.; Baldassari, Sara; Chipaux, Mathilde; Sim, Nam Suk; Ko, Ara; Kang, Hoon-Chul; Bluemcke, Ingmar; Lal, Dennis; Baulac, Stephanie; Lee, Jeong Ho; Aronica, Eleonora; Braun, Kees P. J.
err分享
err收藏
WONOEP appraisal: The role of glial cells in focal malformations associated with early onset epilepsies
errEPILEPSIA
IF6.6
err2024-10-14
err1
errOAAI
errCases-Cunillera, Silvia; Quatraccioni, Anne; Rossini, Laura; Ruffolo, Gabriele; Ono, Tomonori; Baulac, Stephanie; Auvin, Stephane; O'Brien, Terence J.; Henshall, David C.; Akman, Ozlem; Sankar, Raman; Galanopoulou, Aristea S.
err分享
err收藏
Genetic Insights Into Hypothalamic Hamartoma
errNEUROLOGY-GENETICS
IF3.7
err2024-10-01
err0
errOAAI
errSami, Lina; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Doladilhe, Marion; Bulteau, Christine; Raffo, Emmanuel; Rosenberg, Sarah; Dorfmuller, Georg; Checri, Rayann; Agathe, Jean-Madeleine De Sainte; Leguern, Eric; Adle-Biassette, Homa; Baldassari, Sara; Baulac, Stephanie
err分享
err收藏
WONOEP appraisal: Genetic insights into early onset epilepsies
errEPILEPSIA
IF6.6
err2024-09-20
err0
errOAAI
errQuatraccioni, Anne; Cases-Cunillera, Silvia; Balagura, Ganna; Coleman, Matthew; Rossini, Laura; Mills, James D.; Casillas-Espinosa, Pablo M.; Moshe, Solomon L.; Sankar, Raman; Baulac, Stephanie; Noebels, Jeffrey L.; Auvin, Stephane; O'Brien, Terence J.; Henshall, David C.; Akman, Ozlem; Galanopoulou, Aristea S.
err分享
err收藏
WONOEP appraisal: Modeling early onset epilepsies
errEPILEPSIA
IF6.6
err2024-07-23
err0
PREAI
errDe Meulemeester, Ann-Sofie; Reid, Christopher; Auvin, Stephane; Carlen, Peter L.; Cole, Andrew J.; Szlendak, Roza; Di Sapia, Rossella; Moshe, Solomon L.; Sankar, Raman; O'Brien, Terence J.; Baulac, Stephanie; Henshall, David C.; Akman, Oezlem; Galanopoulou, Aristea S.
err分享
err收藏
PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2024-06-06
err2
errOAAI
errYamaguchi, Junna; Isnard, Pierre; Robil, Noemie; de la Grange, Pierre; Hoguin, Clement; Schmitt, Alain; Hummel, Aurelie; Megret, Jerome; Goudin, Nicolas; Luka, Marine; Menager, Mickael M.; Masson, Cecile; Zarhrate, Mohammed; Bole-Feysot, Christine; Janiszewska, Michalina; Polyak, Kornelia; Dairou, Julien; Baldassari, Sara; Baulac, Stephanie; Broissand, Christine; Legendre, Christophe; Terzi, Fabiola; Canaud, Guillaume
err分享
err收藏
WONOEP 2022: Neurotechnology for the diagnosis of epilepsy
errEPILEPSIA
IF6.6
err2024-06-03
err3
errOAAI
errWagstyl, Konrad; Kobow, Katja; Casillas-Espinosa, Pablo M.; Cole, Andrew J.; Jimenez-Jimenez, Diego; Nariai, Hiroki; Baulac, Stephanie; O'Brien, Terence; Henshall, David C.; Akman, Ozlem; Sankar, Raman; Galanopoulou, Aristea S.; Auvin, Stephane
err分享
err收藏
Targeted suppression of mTORC2 reduces seizures across models of epilepsy
errNATURE COMMUNICATIONS
IF15.7
err2023-11-14
err9
errOAAI
errOkoh, James; Mays, Jacqunae; Bacq, Alexandre; Oses-Prieto, Juan A.; Tyanova, Stefka; Chen, Chien-Ju; Imanbeyev, Khalel; Doladilhe, Marion; Zhou, Hongyi; Jafar-Nejad, Paymaan; Burlingame, Alma; Noebels, Jeffrey; Baulac, Stephanie; Costa-Mattioli, Mauro
err分享
err收藏
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIbII型局灶性皮质发育不良的深层组织病理学基因型-表型分析GATOR1-altered自噬细胞亚型IIa和MTOR改变的迁移缺陷亚型IIb之间的差异
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2023-11-09
err3
errOAAI
errHonke, Jonas; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Leu, Costin; Pieper, Tom; Hartlieb, Till; Bien, Christian G.; Woermann, Friedrich; Cloppenborg, Thomas; Kalbhenn, Thilo; Gaballa, Ahmed; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Doerfler, Arnd; Rampp, Stefan; Lemke, Johannes R.; Baldassari, Sara; Baulac, Stephanie; Lal, Dennis; Nuernberg, Peter; Bluemcke, Ingmar
err分享
err收藏
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy SurgeryD-半乳糖补充治疗皮质发育轻度畸形伴少突胶质增生的癫痫 (MOGHE): 癫痫手术后精准医学的初步试验
errNEUROTHERAPEUTICS
IF6.9
err2023-09-01
err6
errOAAI
errAledo-Serrano, Angel; Valls-Carbo, Adrian; Fenger, Christina D.; Groeppel, Gudrun; Hartlieb, Till; Pascual, Irene; Herraez, Erika; Cabal, Borja; Garcia-Morales, Irene; Toledano, Rafael; Budke, Marcelo; Beltran-Corbellini, Alvaro; Baldassari, Sara; Coras, Roland; Kobow, Katja; Herrera, David M.; del Barrio, Antonio; Dahl, Hans Atli; del Pino, Isabel; Baulac, Stephanie; Blumcke, Ingmar; Moller, Rikke S.; Gil-Nagel, Antonio
err分享
err收藏
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup
errBRAIN COMMUNICATIONS
IF4.5
err2023-06-01
err16
errOAAI
errChecri, Rayann; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Raffo, Emmanuel; Bulteau, Christine; Rosenberg, Sarah Dominique; Doladilhe, Marion; Dorfmueller, Georg; Adle-Biassette, Homa; Baldassari, Sara; Baulac, Stephanie
err分享
err收藏
mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy
errNEUROBIOLOGY OF DISEASE
IF5.6
err2023-06-01
err25
errOAAI
errGerasimenko, Anna; Baldassari, Sara; Baulac, Stephanie
err分享
err收藏
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene
errNEUROLOGY
IF8.5
err2023-01-31
err19
errOAAI
errBarba, Carmen; Blumcke, Ingmar; Winawer, Melodie R.; Hartlieb, Till; Kang, Hoon-Chul; Grisotto, Laura; Chipaux, Mathilde; Bien, Christian G.; Hermanovska, Barbora; Porter, Brenda E.; Lidov, Hart G. W.; Cetica, Valentina; Woermann, Friedrich G.; Lopez-Rivera, Javier A.; Canoll, Peter D.; Mader, Irina; D'Incerti, Ludovico; Baldassari, Sara; Yang, Edward; Gaballa, Ahmed; Vogel, Hannes; Straka, Barbora; Macconi, Letizia; Polster, Tilman; Grant, Gerald A.; Krskova, Lenka; Shin, Hui Jin; Ko, Ara; Crino, Peter B.; Krsek, Pavel; Lee, Jeong Ho; Lal, Dennis; Baulac, Stephanie; Poduri, Annapurna; Guerrini, Renzo
err分享
err收藏
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
errNATURE GENETICS
IF31.8
err2023-01-12
err46
errOAAI
errChung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Vong, Keng Ioi; Mittal, Swapnil H.; Donkels, Catharina; Westley Phillips, H.; Li, Zhen; Marsh, Ashley P. L.; Breuss, Martin; Ball, Laurel; Garcia, Camila Araujo Bernardino; George, Renee; Gu, Jing; Xu, Mingchu; Barrows, Chelsea; James, Kiely; Stanley, Valentina; Nidhiry, Anna; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xu, Xin; Copeland, Brett; Wang, Yifan G.; Kim, Se Hoon L.; Kang, Hoon-Chul W.; Schulze-Bonhage, Andreas; Haas, Carola; Urbach, Horst; Prinz, Marco; Limbrick, David A.; Gurnett, Christina; Smyth, Matthew C.; Sattar, Shifteh M.; Nespeca, Mark B.; Gonda, David V.; Imai, Katsumi Y.; Takahashi, Yukitoshi E.; Chen, Hsin-Hung B.; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Silva, Wilson; Machado, Helio M.; Mathern, Gary; Abyzov, Alexej; Baldassari, Sara; Baulac, Stephanie; Gleeson, Joseph G.
err分享
err收藏
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
errHUMAN MOLECULAR GENETICS
IF3.2
err2022-09-06
err8
errOAAI
errVerveri, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S.; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Vatevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Turki, Ilhem Ben Youssef; Jones, Wendy D.; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Ponnudas, Prabhakar (Prab); Robinson, Robert; Keim, Sara Margrete Boen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M.; Hurst, Jane A.
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研究方向

暂无研究方向
合作学者
合作期刊
C
Christian Gieger
H 指数: 175 · 论文数: 942
A
Andreas von Deimling
H 指数: 175 · 论文数: 1.8K
L
Leroy Hood
H 指数: 166 · 论文数: 1.0K
A
Alexis Brice
H 指数: 153 · 论文数: 1.2K
S
Stylianos E. Antonarakis
H 指数: 146 · 论文数: 920
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