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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. Among authors: steenweg me. Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24. Brain. 2014. PMID: 24566671
Restricted diffusion in vanishing white matter.
van der Lei HD, Steenweg ME, Bugiani M, Pouwels PJ, Vent IM, Barkhof F, van Wieringen WN, van der Knaap MS. van der Lei HD, et al. Among authors: steenweg me. Arch Neurol. 2012 Jun;69(6):723-7. doi: 10.1001/archneurol.2011.1658. Arch Neurol. 2012. PMID: 22312162
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Kevelam SH, et al. Among authors: steenweg me. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61. doi: 10.1002/acn3.203. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125040 Free PMC article.
Diffusion tensor imaging in metachromatic leukodystrophy.
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW. van Rappard DF, et al. Among authors: steenweg me. J Neurol. 2018 Mar;265(3):659-668. doi: 10.1007/s00415-018-8765-3. Epub 2018 Jan 30. J Neurol. 2018. PMID: 29383515 Free PMC article.
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
Tillema JM, Derks MG, Pouwels PJ, de Graaf P, van Rappard DF, Barkhof F, Steenweg ME, van der Knaap MS, Wolf NI. Tillema JM, et al. Among authors: steenweg me. Ann Clin Transl Neurol. 2015 Sep;2(9):932-40. doi: 10.1002/acn3.232. Epub 2015 Aug 24. Ann Clin Transl Neurol. 2015. PMID: 26401514 Free PMC article.
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