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Acta Neuropathologica|September 5, 2019
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher diseaseSina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, et al.Journal of Medical Genetics|November 17, 2020
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, et al.Nature|August 6, 2025
Microglia-neuron crosstalk via Hex-GM2-MGL2 maintains brain homeostasisMaximilian Frosch, Takashi Shimizu, Emile Wogram, et al.American Journal of Medical Genetics. Part A|June 7, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable conditionLuciana Musante, Flavio Faletra, Kolja Meier, et al.Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.EMBO Molecular Medicine|February 15, 2023
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiencyLars Schlotawa, Karolina Tyka, Matthias Kettwig, et al.Immunity|April 16, 2020
Immune Sensing of Synthetic, Bacterial, and Protozoan RNA by Toll-like Receptor 8 Requires Coordinated Processing by RNase T2 and RNase 2Thomas Ostendorf, Thomas Zillinger, Katarzyna Andryka, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.Nature Communications|November 12, 2021
Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathyMatthias Kettwig, Katharina Ternka, Kristin Wendland, et al.American Journal of Human Genetics|September 25, 2018
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I DeficiencyCharlotte L Alston, Juliana Heidler, Marris G Dibley, et al.Pageof 17