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Nature|August 6, 2025
Microglia-neuron crosstalk via Hex-GM2-MGL2 maintains brain homeostasisMaximilian Frosch, Takashi Shimizu, Emile Wogram, et al.
Eclinicalmedicine|June 13, 2025
Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trialÁngeles García-Cazorla, Caroline Sevin, Juliana Ribeiro Constante, et al.
Neurology. Genetics|March 16, 2017
Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related DisordersHendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 10, 2026
European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapyLucia Laugwitz, Francesca Fumagalli, Katharina Wehner, et al.
Brain : a Journal of Neurology|August 23, 2015
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotypeFatima Jaffer, Andreja Avbersek, Rosaria Vavassori, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
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