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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank; Bakker EB; International Parkinsonism Genetics Network; Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J. Wong TH, et al. Among authors: van swieten j, van duinen sg. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Brain. 2014. PMID: 24722252
The apolipoprotein E epsilon 4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations.
Haan J, Van Broeckhoven C, van Duijn CM, Voorhoeve E, van Harskamp F, van Swieten JC, Maat-Schieman ML, Roos RA, Bakker E. Haan J, et al. Among authors: van duijn cm, van swieten jc, van harskamp f, van broeckhoven c. Ann Neurol. 1994 Sep;36(3):434-7. doi: 10.1002/ana.410360315. Ann Neurol. 1994. PMID: 8080251
Apolipoprotein E gene and sporadic frontal lobe dementia.
Stevens M, van Duijn CM, de Knijff P, van Broeckhoven C, Heutink P, Oostra BA, Niermeijer MF, van Swieten JC. Stevens M, et al. Among authors: van duijn cm, van swieten jc, van broeckhoven c. Neurology. 1997 Jun;48(6):1526-9. doi: 10.1212/wnl.48.6.1526. Neurology. 1997. PMID: 9191760
Familial aggregation in frontotemporal dementia.
Stevens M, van Duijn CM, Kamphorst W, de Knijff P, Heutink P, van Gool WA, Scheltens P, Ravid R, Oostra BA, Niermeijer MF, van Swieten JC. Stevens M, et al. Among authors: van duijn cm, van swieten jc, van gool wa. Neurology. 1998 Jun;50(6):1541-5. doi: 10.1212/wnl.50.6.1541. Neurology. 1998. PMID: 9633692
Phenotypic variation in hereditary frontotemporal dementia with tau mutations.
van Swieten JC, Stevens M, Rosso SM, Rizzu P, Joosse M, de Koning I, Kamphorst W, Ravid R, Spillantini MG, Niermeijer, Heutink P. van Swieten JC, et al. Ann Neurol. 1999 Oct;46(4):617-26. doi: 10.1002/1531-8249(199910)46:4<617::aid-ana10>3.0.co;2-i. Ann Neurol. 1999. PMID: 10514099
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).
Roks G, Van Harskamp F, De Koning I, Cruts M, De Jonghe C, Kumar-Singh S, Tibben A, Tanghe H, Niermeijer MF, Hofman A, Van Swieten JC, Van Broeckhoven C, Van Duijn CM. Roks G, et al. Among authors: van duijn cm, van swieten jc, van harskamp f, van broeckhoven c. Brain. 2000 Oct;123 ( Pt 10):2130-40. doi: 10.1093/brain/123.10.2130. Brain. 2000. PMID: 11004129 Free article.
443 results