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Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.
Reus LM, Jansen IE, Mol MO, van Ruissen F, van Rooij J, van Schoor NM, Tesi N, Reinders MJT, Huisman MA, Holstege H, Visser PJ, de Boer SCM, Hulsman M, Ahmad S, Amin N, Uitterlinden AG, Ikram A, van Duijn CM, Seelaar H, Ramakers IHGB, Verhey FRJ, van der Lugt A, Claassen JAHR, Jan Biessels G, De Deyn PP, Scheltens P, van der Flier WM, van Swieten JC, Pijnenburg YAL, van der Lee SJ. Reus LM, et al. Among authors: van ruissen f. Transl Psychiatry. 2021 Sep 2;11(1):451. doi: 10.1038/s41398-021-01577-3. Transl Psychiatry. 2021. PMID: 34475377 Free PMC article.
Early life involvement in C9orf72 repeat expansion carriers.
Gossink F, Dols A, Stek ML, Scheltens P, Nijmeijer B, Cohn Hokke P, Dijkstra A, Van Ruissen F, Aalfs C, Pijnenburg YAL. Gossink F, et al. Among authors: van ruissen f. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):93-100. doi: 10.1136/jnnp-2020-325994. Epub 2021 Apr 27. J Neurol Neurosurg Psychiatry. 2022. PMID: 33906932
Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia.
de Boer SCM, Woolley L, Mol MO, Serpente M, Reus LM, van Minkelen R, van Vugt JFA, Sorrentino F, Veldink JH, Seelaar H, Galimberti D, van Ruissen F, Mead S, Rogaeva E, Pijnenburg YAL, van der Lee SJ. de Boer SCM, et al. Among authors: van ruissen f. Acta Neuropathol Commun. 2022 Sep 21;10(1):141. doi: 10.1186/s40478-022-01438-0. Acta Neuropathol Commun. 2022. PMID: 36131298 Free PMC article. No abstract available.
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
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
Beeldman E, van der Kooi AJ, de Visser M, van Maarle MC, van Ruissen F, Baas F. Beeldman E, et al. Among authors: van der kooi aj, van ruissen f, van maarle mc. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):410-1. doi: 10.3109/21678421.2015.1066821. Epub 2015 Jul 23. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 26203661
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
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.
46 results