Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00234-024-03405-z.pdf
Reference30 articles.
1. van der Knaap MS, Schiffmann R, Mochel F et al (2019) Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol 18:962–972. https://doi.org/10.1016/S1474-4422(19)30143-7
2. Van der Knaap MS, Leegwater PAJ, Konst AA et al (2002) Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 51(2):264–270. https://doi.org/10.1002/ana.10112
3. Souza MST, Kok F (2005) Leucoencefalopatia com substância branca evanescente. Master Dissertation. Faculdade de Medicina da Universidade de São Paulo. https://doi.org/10.11606/D.5.2005.tde-17042006-094726
4. Van der Knaap MS, Kamphorst W, Barth PG et al (1998) Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 51:540–547. https://doi.org/10.1212/wnl.51.2.540
5. Leegwater PAJ, Konst AAM, Kuyt B et al (1999) The Gene for Leukoencephalopathy with Vanishing White Matter Is Located on Chromosome 3q27. Am J Hum Genet 65:728–734. https://doi.org/10.1086/302548
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