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Page 1
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM. van Minkelen R, et al. Among authors: van den ouweland am, van de graaf r, van der helm r. BMC Med Genet. 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y. BMC Med Genet. 2015. PMID: 26285866 Free PMC article.
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.
van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC. van den Ouweland AM, et al. Among authors: van veghel plandsoen mm, van de graaf r. Fam Cancer. 2011 Mar;10(1):127-32. doi: 10.1007/s10689-010-9393-y. Fam Cancer. 2011. PMID: 20972631 Free PMC article.
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P. van Swieten JC, et al. Among authors: de graaf bm, van de graaf r, de koning i. Am J Hum Genet. 2003 Jan;72(1):191-9. doi: 10.1086/345488. Epub 2002 Dec 13. Am J Hum Genet. 2003. PMID: 12489043 Free PMC article.
Multiple familial trichoepithelioma and familial cylindroma: one cause!
Oranje AP, Halley D, den Hollander JC, Teepe RG, van de Graaf R, van den Ouweland A, Wagner A. Oranje AP, et al. Among authors: van de graaf r, van den ouweland a. J Eur Acad Dermatol Venereol. 2008 Nov;22(11):1395-6. doi: 10.1111/j.1468-3083.2008.02648.x. Epub 2008 Mar 18. J Eur Acad Dermatol Venereol. 2008. PMID: 18355210 No abstract available.
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
van Herpen E, Rosso SM, Serverijnen LA, Yoshida H, Breedveld G, van de Graaf R, Kamphorst W, Ravid R, Willemsen R, Dooijes D, Majoor-Krakauer D, Kros JM, Crowther RA, Goedert M, Heutink P, van Swieten JC. van Herpen E, et al. Among authors: van swieten jc, van de graaf r. Ann Neurol. 2003 Nov;54(5):573-81. doi: 10.1002/ana.10721. Ann Neurol. 2003. PMID: 14595646
Collateral-based selection for endovascular treatment of acute ischaemic stroke in the late window (MR CLEAN-LATE): 2-year follow-up of a phase 3, multicentre, open-label, randomised controlled trial in the Netherlands.
Huijberts I, Pinckaers FME, Olthuis SGH, van Kuijk SMJ, Postma AA, Boogaarts HD, Roos YBWEM, Majoie CBLM, van der Lugt A, Dippel DWJ, van Zwam WH, van Oostenbrugge RJ; MR CLEAN-LATE investigators. Huijberts I, et al. Lancet Neurol. 2024 Sep;23(9):893-900. doi: 10.1016/S1474-4422(24)00228-X. Epub 2024 Jun 20. Lancet Neurol. 2024. PMID: 38909624 Clinical Trial.
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