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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT. Namavar Y, et al. Among authors: van ruissen f. Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15. Brain. 2011. PMID: 20952379 Free PMC article.
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F. Namavar Y, et al. Among authors: van ruissen f. Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368912 Free PMC article.
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Among authors: van ruissen f, van meegen mt. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.
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: van ruissen f, van der knaap ms. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.
Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA. Ritz K, et al. Among authors: van ruissen f, van der linden c. J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9. J Neurol Neurosurg Psychiatry. 2009. PMID: 19066193
Serial analysis of gene expression (SAGE).
van Ruissen F, Baas F. van Ruissen F, et al. Methods Mol Biol. 2007;383:41-66. doi: 10.1007/978-1-59745-335-6_4. Methods Mol Biol. 2007. PMID: 18217678
The phenotype of the Gly94fsX222 PMP22 insertion.
de Vries SD, Verhamme C, van Ruissen F, van Paassen BW, Arts WF, Kerkhoff H, van Engelen BG, Lammens M, de Visser M, Baas F, van der Kooi AJ. de Vries SD, et al. Among authors: van paassen bw, van ruissen f, van der kooi aj, van engelen bg. J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x. J Peripher Nerv Syst. 2011. PMID: 21692910
46 results