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POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk RML, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap MS, Pouwels PJW, Wolf NI. Harting I, et al. Among authors: vreeburg m. Neurogenetics. 2020 Apr;21(2):121-133. doi: 10.1007/s10048-019-00602-4. Epub 2020 Jan 15. Neurogenetics. 2020. PMID: 31940116 Free PMC article.
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M. Traschütz A, et al. Among authors: vreeburg m. Parkinsonism Relat Disord. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29. Parkinsonism Relat Disord. 2019. PMID: 30522958
Postzygotic mosaicism in basal cell naevus syndrome.
Reinders MGHC, Boersma HJ, Leter EM, Vreeburg M, Paulussen ADC, Arits AHMM, Roemen GMJM, Speel EJM, Steijlen PM, van Geel M, Mosterd K. Reinders MGHC, et al. Among authors: vreeburg m. Br J Dermatol. 2017 Jul;177(1):249-252. doi: 10.1111/bjd.15082. Epub 2017 Jun 6. Br J Dermatol. 2017. PMID: 27658957
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Guo L, Engelen BPH, Hemel IMGM, de Coo IFM, Vreeburg M, Sallevelt SCEH, Hellebrekers DMEI, Jacobs EH, Sadeghi-Niaraki F, van Tienen FHJ, Smeets HJM, Gerards M. Guo L, et al. Among authors: vreeburg m. Eur J Hum Genet. 2021 Dec;29(12):1789-1795. doi: 10.1038/s41431-021-00947-1. Epub 2021 Aug 23. Eur J Hum Genet. 2021. PMID: 34426662 Free PMC article.
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
Knijnenburg ACS, Nicolai J, Bok LA, Bay A, Stegmann APA, Sinnema M, Vreeburg M. Knijnenburg ACS, et al. Among authors: vreeburg m. Neurol Genet. 2020 Apr 1;6(3):e418. doi: 10.1212/NXG.0000000000000418. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32337345 Free PMC article.
Genodermatoses caused by genetic mosaicism.
Vreeburg M, van Steensel MA. Vreeburg M, et al. Eur J Pediatr. 2012 Dec;171(12):1725-35. doi: 10.1007/s00431-012-1855-9. Epub 2012 Nov 1. Eur J Pediatr. 2012. PMID: 23114847 Review.
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
van Steensel MA, Vreeburg M, Peels C, van Ravenswaaij-Arts CM, Bijlsma E, Schrander-Stumpel CT, van Geel M. van Steensel MA, et al. Among authors: vreeburg m. Exp Dermatol. 2006 Sep;15(9):731-4. doi: 10.1111/j.1600-0625.2006.00474.x. Exp Dermatol. 2006. PMID: 16881968
56 results