Van Broeckhoven C - Search Results

1

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Dürr A, Brice A. Fujigasaki H, et al. Among authors: van broeckhoven c. Brain. 2001 Oct;124(Pt 10):1939-47. doi: 10.1093/brain/124.10.1939. Brain. 2001. PMID: 11571212

2

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.

Krols L, Martin JJ, David G, Van Regemorter N, Benomar A, Löfgren A, Stevanin G, Dürr A, Brice A, Van Broeckhoven C. Krols L, et al. Among authors: van regemorter n, van broeckhoven c. Hum Genet. 1997 Feb;99(2):225-32. doi: 10.1007/s004390050344. Hum Genet. 1997. PMID: 9048926

3

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Dermaut B, Kumar-Singh S, De Jonghe C, Cruts M, Löfgren A, Lübke U, Cras P, Dom R, De Deyn PP, Martin JJ, Van Broeckhoven C. Dermaut B, et al. Among authors: van broeckhoven c. Brain. 2001 Dec;124(Pt 12):2383-92. doi: 10.1093/brain/124.12.2383. Brain. 2001. PMID: 11701593

4

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion.

Dermaut B, Cruts M, Backhovens H, Lübke U, Van Everbroeck B, Sciot R, Dom R, Martin JJ, Van Broeckhoven C, Cras P. Dermaut B, et al. Among authors: van everbroeck b, van broeckhoven c. J Neurol. 2000 May;247(5):364-8. doi: 10.1007/s004150050603. J Neurol. 2000. PMID: 10896268

5

Classical Friedreich's ataxia and its genotype.

Martin J, Martin L, Löfgren A, D'Hooghe M, Storm K, Balemans W, Palau F, Van Broeckhoven C. Martin J, et al. Among authors: van broeckhoven c. Eur Neurol. 1999;42(2):109-15. doi: 10.1159/000069420. Eur Neurol. 1999. PMID: 10473983

6

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.

Mauger C, Del-Favero J, Ceuterick C, Lübke U, van Broeckhoven C, Martin J. Mauger C, et al. Among authors: van broeckhoven c. Brain Res Mol Brain Res. 1999 Dec 10;74(1-2):35-43. doi: 10.1016/s0169-328x(99)00256-9. Brain Res Mol Brain Res. 1999. PMID: 10640674

7

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

Michalik A, Martin JJ, Van Broeckhoven C. Michalik A, et al. Among authors: van broeckhoven c. Eur J Hum Genet. 2004 Jan;12(1):2-15. doi: 10.1038/sj.ejhg.5201108. Eur J Hum Genet. 2004. PMID: 14571264 Review.

8

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. Van Goethem G, et al. Among authors: van broeckhoven c. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547

9

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.

Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C. Brouwers N, et al. Among authors: van den broeck m, van der zee j, van broeckhoven c. Neurology. 2008 Aug 26;71(9):656-64. doi: 10.1212/01.wnl.0000319688.89790.7a. Epub 2008 Jun 18. Neurology. 2008. PMID: 18565828

10

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.

van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C. van der Zee J, et al. Among authors: van den broeck m, van langenhove t, van broeckhoven c. Neurology. 2009 Aug 25;73(8):626-32. doi: 10.1212/WNL.0b013e3181b389d9. Neurology. 2009. PMID: 19704082 Clinical Trial.

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

779 results

Search Page

Filters