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53 results

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Page 1
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Weterman MA, et al. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102
Phenotype of Charcot-Marie-Tooth disease Type 2.
Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M. Bienfait HM, et al. Among authors: weterman ma. Neurology. 2007 May 15;68(20):1658-67. doi: 10.1212/01.wnl.0000263479.97552.94. Neurology. 2007. PMID: 17502546
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: weterman ma. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F. Kuijpers TW, et al. Among authors: weterman ma. Blood. 2009 May 7;113(19):4740-6. doi: 10.1182/blood-2008-10-182154. Epub 2008 Dec 8. Blood. 2009. PMID: 19064721 Free article.
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F. Weterman MA, et al. Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888301 Free PMC article.
A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.
Aerts MB, Weterman MA, Quadri M, Schelhaas HJ, Bloem BR, Esselink RA, Baas F, Bonifati V, van de Warrenburg BP. Aerts MB, et al. Among authors: weterman ma. Ann Clin Transl Neurol. 2015 Dec 22;3(2):146-9. doi: 10.1002/acn3.281. eCollection 2016 Feb. Ann Clin Transl Neurol. 2015. PMID: 26900582 Free PMC article.
Deregulated expression of EZH2 in congenital brainstem disconnection.
Barth PG, Aronica E, Fox S, Fluiter K, Weterman MAJ, Poretti A, Miller DC, Boltshauser E, Harding B, Santi M, Baas F. Barth PG, et al. Among authors: weterman maj. Neuropathol Appl Neurobiol. 2017 Jun;43(4):358-365. doi: 10.1111/nan.12368. Neuropathol Appl Neurobiol. 2017. PMID: 27886392 No abstract available.
53 results