Congenital myasthenic syndromes in Belgium : genetic and clinical characterization of pediatric and adult patients

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Pediatric neurology - ISSN 0887-8994-158 (2024) p. 57-65
Auteur(s)
    Nathalie Smeets, Alexander Gheldof, Bart Dequeker, Margaux Poleur, Sofia Maldonado Slootjes, Vinciane Van Parijs, Nicolas Deconinck, Pauline Dontaine, Alicia Alonso Jimenez, Jan De Bleecker, Willem De Ridder, Sarah Herdewyn, Stephanie Paquay, Arnaud Vanlander, Liesbeth De Waele, Geertrui Peirens, Diane Beysen, Kristl G. Claeys, Nicolas Dubuisson, Isabelle Hansen, Gauthier Remiche, Sara Seneca, Veronique Bissay, Luc Regal

Role of CAMK2D in neurodevelopment and associated conditions

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The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Auteur(s)
    Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer B. Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin-To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, Fiona McKenzie, Elizabeth Bhoj, Caleb P. Bupp, Stephane Bezieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung-Chien Hsieh, Peter M. Krawitz, Miriam Elbracht, Danielle C.M. Veenma, Howard Schulman, Margaret M. Stratton, Sebastien Kury, Geeske M. van Woerden

ADA2 deficiency mimicking acute disseminated encephalomyelitis

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Journal of clinical immunology - ISSN 0271-9142-43 (2023) p. 536-539
Auteur(s)
    Lisa Ehlers, Giorgia Bucciol, Diane Beysen, Isabelle Meyts