van Swieten JC - Search Results

1

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Among authors: van schoor nm, van swieten jc, van den berg lh. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876

2

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

Rosso SM, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: van swieten jc, van herpen e. Ann Neurol. 2002 Mar;51(3):373-6. doi: 10.1002/ana.10140. Ann Neurol. 2002. PMID: 11891833

3

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: van de graaf r. 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.

4

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: van duijn cm, van swieten jc. Brain. 2003 Sep;126(Pt 9):2016-22. doi: 10.1093/brain/awg204. Epub 2003 Jul 22. Brain. 2003. PMID: 12876142

5

Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations.

Rosso SM, van Herpen E, Pijnenburg YA, Schoonenboom NS, Scheltens P, Heutink P, van Swieten JC. Rosso SM, et al. Among authors: van swieten jc, van herpen e. Arch Neurol. 2003 Sep;60(9):1209-13. doi: 10.1001/archneur.60.9.1209. Arch Neurol. 2003. PMID: 12975285

6

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

7

Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.

van Swieten JC, Rosso SM, van Herpen E, Kamphorst W, Ravid R, Heutink P. van Swieten JC, et al. Among authors: van herpen e. Dement Geriatr Cogn Disord. 2004;17(4):261-4. doi: 10.1159/000077150. Dement Geriatr Cogn Disord. 2004. PMID: 15178932 Review.

8

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.

Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Brusse E, et al. Among authors: van swieten jc. Mov Disord. 2006 Mar;21(3):396-401. doi: 10.1002/mds.20708. Mov Disord. 2006. PMID: 16211615

9

Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.

Bertoli-Avella AM, Dekker MC, Aulchenko YS, Houwing-Duistermaat JJ, Simons E, Testers L, Pardo LM, Rademaker TA, Snijders PJ, van Swieten JC, Bonifati V, Heutink P, van Duijn CM, Oostra BA. Bertoli-Avella AM, et al. Among authors: van duijn cm, van swieten jc. Hum Genet. 2006 Mar;119(1-2):51-60. doi: 10.1007/s00439-005-0108-7. Epub 2005 Dec 14. Hum Genet. 2006. PMID: 16369765

10

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.

Rizzu P, van Mil SE, Anar B, Rosso SM, Donker Kaat L, Heutink P, van Swieten JC. Rizzu P, et al. Among authors: van swieten jc, van mil se. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):944-6. doi: 10.1002/ajmg.b.30410. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16941655

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