Heutink P - Search Results

1

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Among authors: heutink p. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.

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: heutink p. 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: heutink p. 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: heutink p. 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: heutink p. Arch Neurol. 2003 Sep;60(9):1209-13. doi: 10.1001/archneur.60.9.1209. Arch Neurol. 2003. PMID: 12975285

6

An English kindred with a novel recessive tauopathy and respiratory failure.

Nicholl DJ, Greenstone MA, Clarke CE, Rizzu P, Crooks D, Crowe A, Trojanowski JQ, Lee VM, Heutink P. Nicholl DJ, et al. Among authors: heutink p. Ann Neurol. 2003 Nov;54(5):682-6. doi: 10.1002/ana.10747. Ann Neurol. 2003. PMID: 14595660

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: heutink p. 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: heutink p. Mov Disord. 2006 Mar;21(3):396-401. doi: 10.1002/mds.20708. Mov Disord. 2006. PMID: 16211615

9

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: heutink p. 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

10

Progranulin mutations in Dutch familial frontotemporal lobar degeneration.

Bronner IF, Rizzu P, Seelaar H, van Mil SE, Anar B, Azmani A, Donker Kaat L, Rosso S, Heutink P, van Swieten JC. Bronner IF, et al. Among authors: heutink p. Eur J Hum Genet. 2007 Mar;15(3):369-74. doi: 10.1038/sj.ejhg.5201772. Epub 2007 Jan 17. Eur J Hum Genet. 2007. PMID: 17228326

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

382 results

Search Page