Heutink P - Search Results

1

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH Jr, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH. Diekstra FP, et al. Among authors: heutink p. Ann Neurol. 2014 Jul;76(1):120-33. doi: 10.1002/ana.24198. Epub 2014 Jun 27. Ann Neurol. 2014. PMID: 24931836 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

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: heutink p. Ann Neurol. 2003 Nov;54(5):573-81. doi: 10.1002/ana.10721. Ann Neurol. 2003. PMID: 14595646

7

A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.

Aulchenko YS, Vaessen N, Heutink P, Pullen J, Snijders PJ, Hofman A, Sandkuijl LA, Houwing-Duistermaat JJ, Edwards M, Bennett S, Oostra BA, van Duijn CM. Aulchenko YS, et al. Among authors: heutink p. Diabetes. 2003 Dec;52(12):3001-4. doi: 10.2337/diabetes.52.12.3001. Diabetes. 2003. PMID: 14633863

8

Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.

Prudlo J, Alber B, Kalscheuer VM, Roemer K, Martin T, Dullinger J, Sittinger H, Niemann S, Heutink P, Ludolph AC, Ropers HH, Zang K, Meyer T. Prudlo J, et al. Among authors: heutink p. Ann Neurol. 2004 Jan;55(1):134-8. doi: 10.1002/ana.10822. Ann Neurol. 2004. PMID: 14705124

9

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.

10

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

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