Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B.
Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007.
Leukodystrophy: Basic and Clinical.
Raymond GV.
Adv Neurobiol. 2017;15:365-382. doi: 10.1007/978-3-319-57193-5_14.
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F.
Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3.
AARS2-Related Leukodystrophy: a Case Report and Literature Review.
Zhang X, Li J, Zhang Y, Gao M, Peng T, Tian T.
Cerebellum. 2023 Feb;22(1):59-69. doi: 10.1007/s12311-022-01369-5. Epub 2022 Jan 27.
DEGS1 -related leukodystrophy: a clinical report and review of literature.
Wong MST, Thomas T, Lim JY, Kam S, Teo JX, Ching J, Goh CYJ, Jamuar SS, Lim WK, Koh AL.
Clin Dysmorphol. 2023 Jul 1;32(3):106-111. doi: 10.1097/MCD.0000000000000457. Epub 2023 May 1.
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Coulombe B, Derksen A, La Piana R, Brais B, Gauthier MS, Bernard G.
Fac Rev. 2021 Feb 5;10:12. doi: 10.12703/r/10-12. eCollection 2021.
Amino-acyl tRNA synthetases associated with leukodystrophy.
Engelen M, van der Knaap MS, Wolf NI.
Handb Clin Neurol. 2024;204:253-261. doi: 10.1016/B978-0-323-99209-1.00020-X.
Metachromatic Leukodystrophy.
Lamichhane A, Rocha Cabrero F.
2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Animal models of leukodystrophy: a new perspective for the development of therapies.
Rutherford HA, Hamilton N.
FEBS J. 2019 Nov;286(21):4176-4191. doi: 10.1111/febs.15060. Epub 2019 Oct 9.
Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS.
2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
