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Brain : a Journal of Neurology|March 15, 2024
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathyCaroline G Bergner, Marjolein Breur, M Clara Soto-Bernardini, et al.
Journal of Leukocyte Biology|January 22, 2024
Viral presence and immunopathology in a kidney transplant recipient with fatal COVID-19: a clinical autopsy reportLarissa E van Eijk, Arno R Bourgonje, Mirjam F Mastik, et al.
Brain : a Journal of Neurology|May 6, 2025
Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matterJavier Triñanes-Ramos, Marianna Bugiani, Gemma van Rooijen-van Leeuwen, et al.
Annals of Clinical and Translational Neurology|May 11, 2023
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIAMarianna Bugiani, Truus E M Abbink, Arthur W D Edridge, et al.
Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Neurology. Genetics|March 30, 2026
Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASILMinne N Cerfontaine, Gido Gravesteijn, Remco J Hack, et al.
Journal of Inherited Metabolic Disease|June 20, 2020
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndromePippa Staps, William B Rizzo, Frédéric M Vaz, et al.
Acta Neuropathologica|April 30, 2014
Human pontine glioma cells can induce murine tumorsViola Caretti, A Charlotte P Sewing, Tonny Lagerweij, et al.
Cell Reports. Medicine|August 29, 2024
Gemcitabine therapeutically disrupts essential SIRT1-mediated p53 repression in atypical teratoid/rhabdoid tumorsDennis S Metselaar, Michaël H Meel, Joshua R Goulding, et al.
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