ADA2 deficiency mimicking acute disseminated encephalomyelitis

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

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Source
Molecular psychiatry - ISSN 1359-4184-28 (2023) p. 668-697
Author(s)
    Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogne, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stephanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Vera M. Kalscheuer

A severe form of familial desminopathy due to a homozygous nonsense DES variant in two siblings

Source
Neuropediatrics - ISSN 0174-304X-54:4 (2023) p. 279-286
Author(s)

Clinical investigation of French maritime pine bark extract on attention-deficit hyperactivity disorder as compared to methylphenidate and placebo : part 1: efficacy in a randomised trial

Source
Journal of functional foods - ISSN 1756-4646-97 (2022) p. 1-7
Author(s)