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Brain Communications|May 12, 2021
A novel remitting leukodystrophy associated with a variant in FBP2Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, et al.Experimental Neurology|May 28, 2019
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaPeter Huppke, Eike Wegener, Jonathan Gilley, et al.Archives of Neurology|February 29, 2012
Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with optic neuritisKevin Rostasy, Simone Mader, Kathrin Schanda, et al.Glia|June 17, 2021
Concurrent axon and myelin destruction differentiates X-linked adrenoleukodystrophy from multiple sclerosisCaroline G Bergner, Nafiye Genc, Simon Hametner, et al.Human Mutation|April 18, 2012
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutasePeter Huppke, Cornelia Brendel, Georg Christoph Korenke, et al.Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.Human Mutation|August 31, 2006
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophyMichael Linnebank, Alexander Semmler, Wim J Kleijer, et al.Multiple Sclerosis (Houndmills, Basingstoke, England)|March 10, 2022
Efficacy and safety of ofatumumab in recently diagnosed, treatment-naive patients with multiple sclerosis: Results from ASCLEPIOS I and IIJutta Gärtner, Stephen L Hauser, Amit Bar-Or, et al.Nature Genetics|June 16, 2009
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infectionMarco Henneke, Simone Diekmann, Andreas Ohlenbusch, et al.Nature Communications|October 12, 2017
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorderPeter Huppke, Susann Weissbach, Joseph A Church, et al.Pageof 17