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Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Elfferich P, Verleun-Mooijman MC, Maat-Kievit JA, van de Warrenburg BP, Abdo WF, Eshuis SA, Leenders KL, Hovestadt A, Zijlmans JC, Stroy JP, van Swieten JC, Boon AJ, van Engelen K, Verschuuren-Bemelmans CC, Lesnik-Oberstein SA, Tassorelli C, Lopiano L, Bonifati V, Dooijes D, van Minkelen R. Elfferich P, et al. Among authors: van minkelen r, van swieten jc, van engelen k, van de warrenburg bp. Neurogenetics. 2011 Nov;12(4):263-71. doi: 10.1007/s10048-011-0302-9. Epub 2011 Oct 13. Neurogenetics. 2011. PMID: 21993715 Free PMC article.
Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation.
Dopper EG, Seelaar H, Chiu WZ, de Koning I, van Minkelen R, Baker MC, Rozemuller AJ, Rademakers R, van Swieten JC. Dopper EG, et al. Among authors: van minkelen r, van swieten jc. J Mol Neurosci. 2011 Nov;45(3):354-8. doi: 10.1007/s12031-011-9626-z. Epub 2011 Aug 24. J Mol Neurosci. 2011. PMID: 21863316 Free PMC article.
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.
Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.
Dopper EG, Chalos V, Ghariq E, den Heijer T, Hafkemeijer A, Jiskoot LC, de Koning I, Seelaar H, van Minkelen R, van Osch MJ, Rombouts SA, van Swieten JC. Dopper EG, et al. Among authors: van minkelen r, van swieten jc, van osch mj. Neuroimage Clin. 2016 Aug 3;12:460-5. doi: 10.1016/j.nicl.2016.08.001. eCollection 2016. Neuroimage Clin. 2016. PMID: 27625986 Free PMC article.
Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.
Meeter LH, Patzke H, Loewen G, Dopper EG, Pijnenburg YA, van Minkelen R, van Swieten JC. Meeter LH, et al. Among authors: van minkelen r, van swieten jc. Dement Geriatr Cogn Dis Extra. 2016 Jul 22;6(2):330-340. doi: 10.1159/000447738. eCollection 2016 May-Aug. Dement Geriatr Cogn Dis Extra. 2016. PMID: 27703466 Free PMC article.
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.
Bouwkamp CG, Kievit AJA, Markx S, Friedman JI, van Zutven L, van Minkelen R, Vrijenhoek T, Xu B, Sterrenburg-van de Nieuwegiessen I, Veltman JA, Bonifati V, Kushner SA. Bouwkamp CG, et al. Among authors: van zutven l, van minkelen r. Am J Psychiatry. 2017 Nov 1;174(11):1036-1050. doi: 10.1176/appi.ajp.2017.16080946. Am J Psychiatry. 2017. PMID: 29088930 No abstract available.
Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia.
Jiskoot LC, Panman JL, van Asseldonk L, Franzen S, Meeter LHH, Donker Kaat L, van der Ende EL, Dopper EGP, Timman R, van Minkelen R, van Swieten JC, van den Berg E, Papma JM. Jiskoot LC, et al. Among authors: van minkelen r, van asseldonk l, van swieten jc, van der ende el, van den berg e. J Neurol. 2018 Jun;265(6):1381-1392. doi: 10.1007/s00415-018-8850-7. Epub 2018 Apr 7. J Neurol. 2018. PMID: 29627938 Free PMC article.
Three VCP Mutations in Patients with Frontotemporal Dementia.
Wong TH, Pottier C, Hondius DC, Meeter LHH, van Rooij JGJ, Melhem S; Netherlands Brain bank; van Minkelen R, van Duijn CM, Rozemuller AJM, Seelaar H, Rademakers R, van Swieten JC. Wong TH, et al. Among authors: van minkelen r, van duijn cm, van swieten jc, van rooij jgj. J Alzheimers Dis. 2018;65(4):1139-1146. doi: 10.3233/JAD-180301. J Alzheimers Dis. 2018. PMID: 30103325
113 results