arrow
返回
C

Christel Depienne

University Duisburg-Essen

71H指数
320论文数
1.8W被引数
收录论文 139
发表时间
Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach107例突尼斯患者胼胝体异常(CCA)的临床与基因组特征分析:采用逐步诊断方法
err2026-09-15
err0
errOAAI
errBK Bochra Khadija; HH Hamza Hadj Abdallah; WS Wafa Slimani; AB Ayda Bennour; SD Sarra Dimassi; NS Najla Soyah; AB Amira Benzarti; KR Khouloud Rjiba; WD Wafa Dahleb; MK Molka Kammoun; HH Hanen Hannechi; HB Hela Ben Khelifa; NG Neziha Gouider Khouja; LB Lamia Boughamoura; IK Ichrak Kraoua; CT Chahnaz Triki; AT Amel Tej; JM Jihen Mathlouthi; AG Aida Guith; SA Saoussen Abroug; RK Raoudha Kebaili; MA Mohamed Ali Bouaziz; HS Habib Soua; ES Essia Sboui; SH Samir Hadded; RZ Randa Ziadi; KM Kamel Monastiri; HB Hayet Ben Hamida; MG Monji Ghanmi; SH Sayda Hassayoun; MT Mohamed Tahar Sfar; AS Ali Saad; CD Christel Depienne; SM Soumaya Mougou-Zerelli
err分享
err收藏
Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patientsSCA27B型共济失调的纵向进展、指标、年龄依赖性及严重程度修饰因子:一项219例患者的多中心研究
err2026-08-01
err0
PREAI
errTraschutz, Andreas; Hilgers, Ralf-Dieter; Erdlenbruch, Friedrich; Depienne, Christel; Wirth, Thomas; Delvallee, Clarisse; Numann, Astrid; Ashton, Catherine; Pellerin, David; Indelicato, Elisabetta; Heindl, Felix; Renaud, Mathilde; Borsche, Max; Grobe-Einsler, Marcus; Faber, Jennifer; Klockgether, Thomas; Schols, Ludger; Brais, Bernard; Anheim, Mathieu; Timmann, Dagmar; Synofzik, Matthis
err分享
err收藏
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes作者更正:非编码RNA基因RNU4-2中的biallelic变异导致一种具有独特白质变化的隐性神经发育综合征
err2026-05-18
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
err分享
err收藏
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRNU4-2非编码RNA基因的双等位基因变异导致一种具有独特白质变化的隐性神经发育综合征。
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
err分享
err收藏
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersRNU4-2的饱和编辑揭示了不同的显性和隐性障碍
errNature
IF48.5
err2026-04-08
err0
errOAAI
errJoachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Christina M. Kajba; Benjamin Cogné; Yuyang Chen; Alexander J. M. Blakes; Cas Simons; Rocio Rius; Javeria R. Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V. Balton; Pierre Blanc; Daniel G. Calame; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Katrina M. Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G. Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J. Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G. MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M. Findlay
err分享
err收藏
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
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
err收藏
No role of intronic expansions in HSF1 for essential tremor in Europe欧洲Essential tremor与HSF1内含子扩张无关
errBrain
IF11.7
err2026-02-10
err0
PREAI
errJean-Loup Méreaux; Thomas Wirth; Claire-Sophie Davoine; Clarisse Delvallée; Elsa Leitão; Friedrich Erdlenbruch; Guillaume Cogan; Nicole Jeschonneck; Aurélie Méneret; David Grabli; Claire Ewenczyk; Jean-Baptiste Lamouche; Jean Muller; Nicolas Dondaine; Sabine Kaya; Stephan Klebe; Christine Tranchant; Christel Depienne; Alexis Brice; Mathieu Anheim; Alexandra Durr; for the NS-Park Essential Tremor Working Group
err分享
err收藏
Progress and challenges in sporadic late-onset cerebellar ataxias散发性迟发性小脑共济失调的进展与挑战
err2025-09-22
err0
PREAI
errThomas Wirth; Jennifer Faber; Christel Depienne; Emmanuel Roze; Jérôme Honnorat; Wassilios G. Meissner; Paola Giunti; Christine Tranchant; Thomas Klockgether; Mathieu Anheim
err分享
err收藏
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderSNAPIN基因(编码逆向动力蛋白适配器)中的双等位基因有害变异会导致一种孕前发病的神经发育障碍。
err2025-09-09
err0
errOAAI
errHammad Yousaf; Maayke A. de Koning; Kamal Khan; Kelly L. Gilmore; Mariëtte J.V. Hoffer; Georgios Kellaris; Sophie Lanone; Maylis Dagouassat; Farid Ullah; Phebe N. Adama van Scheltema; Delphine Heron; Yline Capri; Alma Kuechler; Bernd Schweiger; Monique C. Haak; Boris Keren; Frederic Tran Mau Them; Cacha M.P.C.D. Peeters-Scholte; Frank J. Kaiser; Tamara T. Koopmann; Hailiang Mei; Binnaz Yalcin; Christel Depienne; Neeta L. Vora; Gijs W.E. Santen; Erica E. Davis
err分享
err收藏
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing德国患者队列中的重复相关共济失调症,经靶向平行长读长测序分析
errBrain
IF11.7
err2025-09-03
err0
errOAAI
errHannes Erdmann; Annalisa Schaub; Morghan C Lucas; Veronika Scholz; Anna Benet-Pagès; Kerstin Becker; Christine Dineiger; Veronika Mayer; Inga van Buren; Eva Breithausen; Karl Akbari; Isabell Cordts; Mayra Sauer; Christine Schneider; Rosanna Krakowsky; Franziska Schnabel; Konstanze Dunker; Lena Fabritius; Johannes Gerb; Denis Grabova; Ken Möhwald; Marius Näher; Karoline Steinmetz; Franziska Thiessen; Alexander Jäck; Christiane Schneider-Gold; Simone Zittel; Christina Petersen; Isolde Schreyer; Larissa Mämecke; Sibylle Wilfling; Gilbert Wunderlich; David Brenner; Yorck Hellenbroich; Kirsten Muhle; Tessa Huchtemann; Inga Claus; Thomas Klopstock; Michael Strupp; Johannes Levin; Günter U Höglinger; Doreen Huppert; Sandra Becker-Bense; Filipp Filippopulos; Fabian Kilpert; Elsa Leitão; Sabine Kaya; Christel Depienne; Florian Schöberl; Teresa Neuhann; Elke Holinski-Feder; Andreas Zwergal; Angela Abicht
err分享
err收藏
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism杂合RAB3A变异通过部分失活机制导致小脑共济失调
errBRAIN
IF11.7
err2025-06-01
err2
PREAI
errHengel, Holger; Hannan, Shabab B.; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K.; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H.; Lundberg, Julie; Rodan, Lance H.; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A.; Reich, Stephen; Toro, Camilo; Zuechner, Stephan; Hazan, Jamile; Petursson, Hjoervar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schoels, Ludger; Synofzik, Matthis
err分享
err收藏
Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without EpilepsyMARCHF6基因中的重复扩展和小TTTCA插入导致家族性肌阵挛但不伴癫痫
err2025-04-09
err0
errOAAI
errTheresa Kühnel PhD; Elsa Leitão PhD; Renate Lunzer MD, PhD; Fabian Kilpert PhD; Sabine Kaya MS; Claudia Del Gamba MD; Kelly Astudillo MD; Steven Frucht MD, MD; Marion Simonetta-Moreau MD, PhD; Eric Bieth MD, PhD; Iris Unterberger MD; Giulietta Maria Riboldi MD, PhD; Christel Depienne PhD
err分享
err收藏
Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia深部脑刺激对KCNN2-associated肌阵挛-肌张力障碍患者的作用不足
err2025-02-01
err0
PREAI
errPauly, Martje G.; Thomsen, Mirja; Tadic, Vera; Busch, Hauke; Depienne, Christel; Lohmann, Katja; Klein, Christine; Brueggemann, Norbert
err分享
err收藏
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype与Cornelia de Lange综合征表型相关的AFF2基因内的基因内复制
err2024-11-01
err0
errOAAI
errLucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Trujillano, Laura; Morte, Beatriz; Perez-Jurado, Luis A.; Lapunzina, Pablo; Leitao, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pie, Juan
err分享
err收藏
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
err2024-08-23
err0
errOAAI
errQuiros, Vincent Moya; Adham, Ahmed; Convers, Philippe; Lesca, Gaetan; Mauguiere, Francois; Soulier, Hugo; Arzimanoglou, Alexis; Bayat, Allan; Braakman, Hilde; Camdessanche, Jean-Philippe; Casenave, Philippe; Chaton, Laurence; Chaix, Yves; Chochoi, Maxime; Depienne, Christel; Desportes, Vincent; De Ridder, Jessie; Dinkelacker, Vera; Gardella, Elena; Kluger, Gerhard J.; Jung, Julien; Martin, Martine Lemesle; Mancardi, Maria Margherita; Mueller, Markus; Poulat, Anne-Lise; Platzer, Konrad; Roubertie, Agathe; Stokman, Marijn F.; Vulto-van Silfhout, Anneke T.; Wiegand, Gert; Mazzola, Laure
err分享
err收藏
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome全基因组关联研究指出Gilles de la Tourette综合征的新位点
err2024-07-01
err3
PREAI
errTsetsos, Fotis; Topaloudi, Apostolia; Jain, Pritesh; Yang, Zhiyu; Yu, Dongmei; Kolovos, Petros; Tumer, Zeynep; Rizzo, Renata; Hartmann, Andreas; Depienne, Christel; Worbe, Yulia; Mueller-Vahl, Kirsten R.; Cath, Danielle C.; Boomsma, Dorret I.; Wolanczyk, Tomasz; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Padmanabhuni, Shanmukha S.; Buxbaum, Joseph D.; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Yannaki, Evangelia; Stamatoyannopoulos, John A.; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Mir, Pablo; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J.; Porcelli, Cesare; Roessner, Veit; Walitza, Susanne; Schrag, Anette; Martino, Davide; Tischfield, Jay A.; Heiman, Gary A.; Willsey, A. Jeremy; Dietrich, Andrea; Davis, Lea K.; Crowley, James J.; Mathews, Carol A.; Scharf, Jeremiah M.; Georgitsi, Marianthi; Hoekstra, Pieter J.; Paschou, Peristera
err分享
err收藏
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
err2024-06-01
err0
errOAAI
errKalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
err分享
err收藏
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies1018例SCN1A-related癫痫患者的基因型-表型关联
err2024-02-27
err8
errOAAI
errGallagher, Declan; Perez-Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas
err分享
err收藏
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
err2023-12-01
err1
errOAAI
errPellerin, David; Wilke, Carlo; Traschuez, Andreas; Nagy, Sara; Curro, Riccardo; Dicaire, Marie-Josee; Garcia-Moreno, Hector; Anheim, Mathieu; Wirth, Thomas; Faber, Jennifer; Timmann, Dagmar; Depienne, Christel; Rujescu, Dan; Gazulla, Jose; Reilly, Mary M.; Giunti, Paola; Brais, Bernard; Houlden, Henry; Schoes, Ludger; Strupp, Michael; Cortese, Andrea; Synofzik, Matthis
err分享
err收藏
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
err2023-10-25
err3
PREAI
errGras, Mathilde; Heide, Solveig; Keren, Boris; Valence, Stephanie; Garel, Catherine; Whalen, Sandra; Jansen, Anna C.; Keymolen, Kathelijn; Stouffs, Katrien; Jennesson, Melanie; Poirsier, Celine; Lesca, Gaetan; Depienne, Christel; Nava, Caroline; Rastetter, Agnes; Curie, Aurore; Cuisset, Laurence; Des Portes, Vincent; Milh, Mathieu; Charles, Perrine; Mignot, Cyril; Heron, Delphine
err分享
err收藏