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Results: 1 to 20 of 35

1.

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.

Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jul 23:1-2. [Epub ahead of print]

PMID:
26203661
2.

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.

Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23.

3.

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.

Voermans NC, Kleefstra T, Gabreëls-Festen AA, Faas BH, Kamsteeg EJ, Houlden H, Laurá M, Polke JM, Pandraud A, van Ruissen F, van Engelen BG, Reilly MM.

J Peripher Nerv Syst. 2012 Jun;17(2):223-5. doi: 10.1111/j.1529-8027.2012.00402.x. No abstract available.

PMID:
22734911
4.

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.

J Peripher Nerv Syst. 2011 Jun;16(2):113-8. doi: 10.1111/j.1529-8027.2011.00333.x.

PMID:
21692910
5.

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.

Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.

6.

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.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

7.

X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation.

Vrancken AF, Spliet WG, van Ruissen F.

J Peripher Nerv Syst. 2010 Jun;15(2):156-7. doi: 10.1111/j.1529-8027.2010.00266.x. No abstract available.

PMID:
20626781
8.

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.

Eur J Hum Genet. 2010 Apr;18(4):421-8. doi: 10.1038/ejhg.2009.186. Epub 2009 Nov 4.

9.

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.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9.

PMID:
19066193
10.

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.

Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

PMID:
18711368
11.

Scaling of gene expression data allowing the comparison of different gene expression platforms.

van Ruissen F, Schaaf GJ, Kool M, Baas F, Ruijter JM.

Methods Mol Biol. 2008;387:169-83.

PMID:
18287631
12.

Statistical comparison of two or more SAGE libraries: one tag at a time.

Schaaf GJ, van Ruissen F, van Kampen A, Kool M, Ruijter JM.

Methods Mol Biol. 2008;387:151-68.

PMID:
18287630
13.

Serial analysis of gene expression (SAGE).

van Ruissen F, Baas F.

Methods Mol Biol. 2007;383:41-66. doi: 10.1007/978-1-59745-335-6_4.

PMID:
18217678
14.

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.

Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA.

Neuromuscul Disord. 2008 Jan;18(1):59-62. Epub 2007 Sep 6.

PMID:
17825553
15.

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.

Foncke EM, Gerrits MC, van Ruissen F, Baas F, Hedrich K, Tijssen CC, Klein C, Tijssen MA.

Neurology. 2006 Nov 14;67(9):1677-80.

PMID:
17101905
16.

Comparison of Schwann cell and sciatic nerve transcriptomes indicates that mouse is a valid model for the human peripheral nervous system.

Ten Asbroek AL, Van Ruissen F, Ruijter JM, Baas F.

J Neurosci Res. 2006 Aug 15;84(3):542-52.

PMID:
16786575
17.

Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips.

van Ruissen F, Ruijter JM, Schaaf GJ, Asgharnegad L, Zwijnenburg DA, Kool M, Baas F.

BMC Genomics. 2005 Jun 14;6:91.

18.

Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries.

Schaaf GJ, Ruijter JM, van Ruissen F, Zwijnenburg DA, Waaijer R, Valentijn LJ, Benit-Deekman J, van Kampen AH, Baas F, Kool M.

FASEB J. 2005 Mar;19(3):404-6. Epub 2005 Jan 3.

19.

Serial analysis of gene expression in human keratinocytes and epidermis.

Jansen BJ, de Jongh G, Schalkwijk J, van Ruissen F.

Methods Mol Biol. 2005;289:383-98.

PMID:
15502200
20.

Tumor necrosis factor related apoptosis inducing ligand triggers apoptosis in dividing but not in differentiating human epidermal keratinocytes.

Jansen BJ, van Ruissen F, Cerneus S, Cloin W, Bergers M, van Erp PE, Schalkwijk J.

J Invest Dermatol. 2003 Dec;121(6):1433-9.

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