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Page 1
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: kohler w. Brain. 2024 Oct 3;147(10):3562-3572. doi: 10.1093/brain/awae085. Brain. 2024. PMID: 38489591
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC. van der Knaap MS, et al. Among authors: kohler w. Ann Neurol. 2010 Jun;67(6):834-7. doi: 10.1002/ana.21980. Ann Neurol. 2010. PMID: 20517947
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS; LBSL Research Group. van Berge L, et al. Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24. Brain. 2014. PMID: 24566671
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
Michell-Robinson MA, Perrier S, Lucia C, Tran LT, Thiffault I, Köhler W, Bernard G. Michell-Robinson MA, et al. Among authors: kohler w. Neurology. 2022 Apr 19;98(16):675-677. doi: 10.1212/WNL.0000000000200228. Epub 2022 Feb 21. Neurology. 2022. PMID: 35190466 Free PMC article. No abstract available.
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Schmitz AS, Raju J, Köhler W, Klebe S, Cheheb K, Reschke F, Biskup S, Haack TB, Roeben B, Kellner M, Rahner N, Bloch T, Lemke J, Bender B, Schöls L, Hengel H, Hayer SN. Schmitz AS, et al. Among authors: kohler w. J Neurol. 2024 Sep;271(9):6025-6037. doi: 10.1007/s00415-024-12557-0. Epub 2024 Jul 20. J Neurol. 2024. PMID: 39031193 Free PMC article.
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.
Jaspers YRJ, Yska HAF, Bergner CG, Dijkstra IME, Huffnagel IC, Voermans MMC, Wever E, Salomons GS, Vaz FM, Jongejan A, Hermans J, Tryon RK, Lund TC, Köhler W, Engelen M, Kemp S. Jaspers YRJ, et al. Among authors: kohler w. Commun Med (Lond). 2024 Sep 10;4(1):175. doi: 10.1038/s43856-024-00605-9. Commun Med (Lond). 2024. PMID: 39256476 Free PMC article.
Hypomyelinating leukodystrophies: translational research progress and prospects.
Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Pouwels PJ, et al. Among authors: kohler w. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24. Ann Neurol. 2014. PMID: 24916848 Free article. Review.
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Free PMC article. Review.
577 results