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Brain : a Journal of Neurology|February 26, 2014
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapyLaura van Berge, Eline M Hamilton, Tarja Linnankivi, et al.
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
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