Dermaut B - Search Results

1

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Among authors: dermaut b. Nat Genet. 2001 Jul;28(3):211-2. doi: 10.1038/90034. Nat Genet. 2001. PMID: 11431686

2

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease.

Dermaut B, Cruts M, Slooter AJ, Van Gestel S, De Jonghe C, Vanderstichele H, Vanmechelen E, Breteler MM, Hofman A, van Duijn CM, Van Broeckhoven C. Dermaut B, et al. Am J Hum Genet. 1999 Jan;64(1):290-2. doi: 10.1086/302200. Am J Hum Genet. 1999. PMID: 9915968 Free PMC article. No abstract available.

3

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C. De Jonghe C, et al. Among authors: dermaut b. Hum Mol Genet. 1999 Aug;8(8):1529-40. doi: 10.1093/hmg/8.8.1529. Hum Mol Genet. 1999. PMID: 10401002

4

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.

Theuns J, Del-Favero J, Dermaut B, van Duijn CM, Backhovens H, Van den Broeck MV, Serneels S, Corsmit E, Van Broeckhoven CV, Cruts M. Theuns J, et al. Among authors: dermaut b. Hum Mol Genet. 2000 Feb 12;9(3):325-31. doi: 10.1093/hmg/9.3.325. Hum Mol Genet. 2000. PMID: 10655540 Free article.

5

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. J Neurol. 2000 May;247(5):364-8. doi: 10.1007/s004150050603. J Neurol. 2000. PMID: 10896268

6

Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia.

Croes EA, Dermaut B, van Der Cammen TJ, van Broeckhoven C, van Duijn CM. Croes EA, et al. Among authors: dermaut b. Am J Hum Genet. 2000 Oct;67(4):1033-5. doi: 10.1086/303074. Am J Hum Genet. 2000. PMID: 10986048 Free PMC article. No abstract available.

7

The cystatin C polymorphism is not associated with early onset Alzheimer's disease.

Roks G, Cruts M, Slooter AJ, Dermaut B, Hofman A, Van Broeckhoven C, Van Duijn CM. Roks G, et al. Among authors: dermaut b. Neurology. 2001 Jul 24;57(2):366-7. doi: 10.1212/wnl.57.2.366-a. Neurology. 2001. PMID: 11468337 No abstract available.

8

The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease.

Theuns J, Feuk L, Dermaut B, Del-Favero J, Roks G, Van den Bossche D, Corsmit E, Van den Broeck M, van Duijn CM, Cruts M, Brookes AJ, Van Broeckhoven C. Theuns J, et al. Among authors: dermaut b. Hum Genet. 2001 Jun;108(6):552-3. doi: 10.1007/s004390100508. Hum Genet. 2001. PMID: 11499683 No abstract available.

9

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: dermaut b. Brain. 2001 Oct;124(Pt 10):1939-47. doi: 10.1093/brain/124.10.1939. Brain. 2001. PMID: 11571212

10

Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype.

Van Everbroeck B, Croes EA, Pals P, Dermaut B, Jansen G, van Duijn CM, Cruts M, Van Broeckhoven C, Martin JJ, Cras P. Van Everbroeck B, et al. Among authors: dermaut b. Neurosci Lett. 2001 Nov 2;313(1-2):69-72. doi: 10.1016/s0304-3940(01)02264-9. Neurosci Lett. 2001. PMID: 11684342

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