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Papers共 70 篇Author StatisticsCo-AuthorSimilar Experts

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Unveiling the Crucial Neuronal Role of the Proteasomal ATPase Subunit Gene PSMC5 in Neurodevelopmental Proteasomopathies
Sébastien Küry,Janelle E. Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid Wentzensen, Annabelle Tuttle,Cara Forster,Johanna Striesow,Richard Golnik,Damara Ortiz, Laura Jenkins,Jill A. Rosenfeld,Alban Ziegler,Clara Houdayer,Dominique Bonneau,Erin Torti,Amber Begtrup,Kristin G. Monaghan,Sureni V. Mullegama, C.M.L. (Nienke) Volker-Touw,Koen L. I. van Gassen,Renske Oegema, Mirjam de Pagter,Katharina Steindl,Anita Rauch,Ivan Ivanovski,Kimberly McDonald,Emily Boothe,Andrew Dauber,Janice Baker, Noelle Andrea V Fabie,Raphael A. Bernier,Tychele N. Turner,Siddharth Srivastava,Kira A. Dies,Lindsay Swanson,Carrie Costin,Rebekah K. Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B. Beck, MCV Malicdan,David R. Adams,Lynne Wolfe,Rebecca D. Ganetzky,Colleen Muraresku,Davit Babikyan,Zdeněk Sedláček,Miroslava Hančárová,Andrew T. Timberlake,Hind Al Saif, Berkley Nestler,Kayla King,MJ Hajianpour,Gregory Costain, D’Arcy Prendergast,Chumei Li,David Geneviève,Antonio Vitobello,Arthur Sorlin,Christophe Philippe,Tamar Harel,Ori Toker,Ataf Sabir,Derek Lim,Mark Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L. Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M. McRae, Mathieu Kent Lessard,Maria Daniela D’Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B. Kamphausen,Viktoria Bothe,Larissa M. Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor,Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W. Hildebrand,Evan E. Eichler,Kirsty McWalter,Peter M. Krawitz,Arnaud Droit,Ype Elgersma,Andreas M. Grabrucker,Francois V. Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger
medrxiv（2024）
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The clinical and genetic spectrum of TRIO-gene related neurodevelopmental disorder
T. B. Hammer,A. Aledo-Serrano,E. Argilli, C. M. Bonardi,C. F. Boerkoel,T. Bierhals,O. Boute, M. Landbo Borresen,N. Chrestian, M. Dasouki, M. David, T. Dudding-Byth,A. Dieux,C. Fagerberg, C. During Fenger,L. Faivre,A. Gil-Nagel,H. Goel, L. Kjaersgaard Hansen,T. Herget, A. E. Jonch, M. Kibaek, M. Leisieur,S. Mahida, J. Maraval,M. Morleo,V. Nigro,R. Oegema,F. Petit,C. Philippe, A. Cotinaud Ricou,M. Rio,L. Sadleir, H. Safraou, S. Sartori,A-S Schoonjans,A. Selicorni, J. Hee Seo,E. Sherr,T. Smol, S. Srivastava, K. Sorensen,C. Thauvin,F. Tran Mau-Them,A. Vitobello,S. Weckhuysen,R. Steensbjerre Moller
EPILEPSIA (2023): 371-372
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CERT1 Mutations Perturb Human Development by Disrupting Sphingolipid Homeostasis
Charlotte Gehin,Museer A. Lone,Winston Lee,Laura Capolupo,Sylvia Ho, Adekemi M. Adeyemi,Erica H. Gerkes,Alexander P. A. Stegmann,Estrella Lopez-Martin,Eva Bermejo-Sanchez,Beatriz Martinez-Delgado,Christiane Zweier,Cornelia Kraus,Bernt Popp,Vincent Strehlow,Daniel Graefe, Ina Knerr, Eppie R. Jones,Stefano Zamuner,Luciano A. Abriata,Vidya Kunnathully,Brandon E. Moeller,Anthony Vocat,Samuel Rommelaere, Jean-Philippe Bocquete,Evelyne Ruchti,Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat,Petra Henklein,Christian Gilissen,Bregje W. van Bon,Rolph Pfundt,Marjolein H. Willemsen,Jolanda H. Schieving,Emanuela Leonardi,Fiorenza Soli,Alessandra Murgia,Hui Guo,Qiumeng Zhang,Kun Xia,Christina R. Fagerberg,Christoph P. Beier,Martin J. Larsen,Irene Valenzuela,Paula Fernandez-alvarez,Shiyi Xiong,Robert Smigiel,Vanesa Lopez-Gonzalez,Lluis Armengol,Manuela Morleo, Angelo Selicorni,Annalaura Torella,Moira Blyth,Nicola S. Cooper,Valerie Wilson,Renske Oegema,Yvan Herenger,Aurore Garde,Ange-Line Bruel,Frederic Tran Mau-Them,Alexis B. R. Maddocks,Jennifer M. Bain,Musadiq A. Bhat,Gregory Costain,Peter Kannu,Ashish Marwaha,Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson,Vykuntaraju K. Gowda,Varunvenkat M. Srinivasan,Yask Gupta,Tze Y. Lim,Simone Sanna-Cherchi,Bruno Lemaitre,Toshiyuki Yamaji,Kentaro Hanada,John E. Burke, Ana Marjia Jaksic,Brian D. McCabe,Paolo De Los Rios,Thorsten Hornemann,Giovanni D'Angelo,Vincenzo A. Gennarino
˜The œJournal of clinical investigation/˜The œjournal of clinical investigationno. 10 (2023)
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Author Statistics

#Papers: 69

#Citation: 1832

H-Index: 23

G-Index: 42

Sociability: 7

Diversity: 2

Activity: 24

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