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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.
Pediatric Neurology|April 11, 2025
Effect of Propofol and Sevoflurane on Vanishing White Matter ModelsEllen Oudejans, Diede Witkamp, Pleun Schonewille, 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.
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.
Neurology|September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABCEline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
The Journal of Clinical Investigation|March 15, 2016
Astrocytes are central in the pathomechanisms of vanishing white matterStephanie Dooves, Marianna Bugiani, Nienke L Postma, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Vanishing white matter: deregulated integrated stress response as therapy targetTruus E M Abbink, Lisanne E Wisse, Ermelinda Jaku, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Annals of Neurology|November 11, 2014
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angleMohit Dubey, Marianna Bugiani, Margreet C Ridder, et al.
Brain : a Journal of Neurology|May 5, 2023
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedemaEmma M J Passchier, Sven Kerst, Eelke Brouwers, et al.
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