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Nature Neuroscience|June 23, 2022
Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signalingPavanish Kumar, Amanda Lim, Sharifah Nur Hazirah, et al.
Neurology|December 3, 2017
Clinical and molecular characterization of <i>KCNT1</i>-related severe early-onset epilepsyAmy McTague, Umesh Nair, Sony Malhotra, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
Science Translational Medicine|May 20, 2021
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonismJoanne Ng, Serena Barral, Carmen De La Fuente Barrigon, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Nature Genetics|December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystoniaEsther Meyer, Keren J Carss, Julia Rankin, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
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