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BMC Neurology|May 22, 2016
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature reviewMatthias Kettwig, Orly Elpeleg, Eike Wegener, et al.JIMD Reports|September 10, 2019
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patientLars Schlotawa, Thomas Dierks, Sophie Christoph, et al.Journal of Molecular Medicine (Berlin, Germany)|December 2, 2010
Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse modelCornelia Brendel, Valery Belakhov, Hauke Werner, et al.Journal of Inherited Metabolic Disease|July 5, 2020
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiencyLars Schlotawa, Joana Preiskorn, Rebecca Ahrens-Nicklas, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 1, 2017
Identification of the Upward Movement of Human CSF In Vivo and its Relation to the Brain Venous SystemSteffi Dreha-Kulaczewski, Arun A Joseph, Klaus-Dietmar Merboldt, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 13, 2015
Inspiration is the major regulator of human CSF flowSteffi Dreha-Kulaczewski, Arun A Joseph, Klaus-Dietmar Merboldt, et al.Multiple Sclerosis (Houndmills, Basingstoke, England)|September 22, 2017
Therapy of highly active pediatric multiple sclerosisPeter Huppke, Brenda Huppke, David Ellenberger, et al.European Journal of Human Genetics : EJHG|August 14, 2014
Tectonic gene mutations in patients with Joubert syndromePeter Huppke, Eike Wegener, Helena Böhrer-Rabel, et al.Cell Death & Disease|December 26, 2025
Unlocking microglia pyroptosis in a model of type I interferon-driven neuroinflammation: lessons from Rnaset2-/- miceKristin Wendland, Milena Irsfeld, Kathrin Schreiber, et al.Journal of Child Neurology|January 19, 2006
Tau, phospho-tau, and S-100B in the cerebrospinal fluid of children with multiple sclerosisKevin Rostasy, Esther Withut, Daniela Pohl, et al.Pageof 17