| Year |
Citation |
Score |
| 2024 |
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, ... ... Dermaut B, et al. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. American Journal of Human Genetics. PMID 38412861 DOI: 10.1016/j.ajhg.2024.01.013 |
0.303 |
|
| 2023 |
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, ... ... Dermaut B, et al. C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD. Acta Neuropathologica. PMID 37000196 DOI: 10.1007/s00401-023-02565-1 |
0.331 |
|
| 2022 |
Lambert E, Saha O, Soares Landeira B, Melo de Farias AR, Hermant X, Carrier A, Pelletier A, Gadaut J, Davoine L, Dupont C, Amouyel P, Bonnefond A, Lafont F, Abdelfettah F, Verstreken P, ... ... Dermaut B, et al. The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects. Acta Neuropathologica Communications. 10: 4. PMID 34998435 DOI: 10.1186/s40478-021-01285-5 |
0.6 |
|
| 2021 |
van der Zee J, Dillen L, Baradaran-Heravi Y, Gossye H, Koçoğlu C, Cuyt I, Dermaut B, Sieben A, Baets J, De Jonghe P, Vandenberghe R, De Deyn P, Cras P, Engelborghs S, Van Broeckhoven C, et al. Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis. Neurobiology of Disease. 156: 105421. PMID 34118419 DOI: 10.1016/j.nbd.2021.105421 |
0.334 |
|
| 2018 |
Gusareva ES, Twizere JC, Sleegers K, Dourlen P, Abisambra JF, Meier S, Cloyd R, Weiss B, Dermaut B, Bessonov K, van der Lee SJ, Carrasquillo MM, Katsumata Y, Cherkaoui M, Asselbergh B, et al. Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease. Neurobiology of Aging. PMID 30201328 DOI: 10.1016/J.Neurobiolaging.2018.08.001 |
0.382 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, ... ... Dermaut B, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. 103: 456. PMID 30193138 DOI: 10.1016/j.ajhg.2018.08.010 |
0.648 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, ... ... Dermaut B, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. PMID 30057031 DOI: 10.1016/J.Ajhg.2018.07.006 |
0.67 |
|
| 2018 |
van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B. Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. Neurology. PMID 29352102 DOI: 10.1212/Wnl.0000000000004999 |
0.366 |
|
| 2017 |
Malmanche N, Dourlen P, Gistelinck M, Demiautte F, Link N, Dupont C, Vanden Broeck L, Werkmeister E, Amouyel P, Bongiovanni A, Bauderlique H, Moechars D, Royou A, Bellen HJ, Lafont F, ... ... Dermaut B, et al. Developmental Expression of 4-Repeat-Tau Induces Neuronal Aneuploidy in Drosophila Tauopathy Models. Scientific Reports. 7: 40764. PMID 28112163 DOI: 10.1038/Srep40764 |
0.739 |
|
| 2017 |
Dourlen P, Abdelfettah F, Dupont C, Davoine L, Amouyel P, Lambert J, Dermaut B. [P3-099]: ISOFORM-DEPENDENT NEUROTOXICITY OF THE ALZHEIMER DISEASE RISK FACTOR BIN1 IN DROSOPHILA Alzheimer's & Dementia. 13: P972-P972. DOI: 10.1016/J.Jalz.2017.06.1309 |
0.307 |
|
| 2016 |
Letronne F, Laumet G, Ayral AM, Chapuis J, Demiautte F, Laga M, Vandenberghe ME, Malmanche N, Leroux F, Eysert F, Sottejeau Y, Chami L, Flaig A, Bauer C, Dourlen P, ... ... Dermaut B, et al. ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease. Ebiomedicine. PMID 27333034 DOI: 10.1016/J.Ebiom.2016.06.002 |
0.378 |
|
| 2016 |
Dourlen P, Fernandez-Gomez FJ, Dupont C, Grenier-Boley B, Bellenguez C, Obriot H, Caillierez R, Sottejeau Y, Chapuis J, Bretteville A, Abdelfettah F, Delay C, Malmanche N, Soininen H, Hiltunen M, ... ... Dermaut B, et al. Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology. Molecular Psychiatry. PMID 27113998 DOI: 10.1038/Mp.2016.59 |
0.404 |
|
| 2015 |
Santens P, Van Damme T, Steyaert W, Willaert A, Sablonnière B, De Paepe A, Coucke PJ, Dermaut B. RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. Neurology. 84: 1760-6. PMID 25841028 DOI: 10.1212/Wnl.0000000000001521 |
0.347 |
|
| 2014 |
Miskiewicz K, Jose LE, Yeshaw WM, Valadas JS, Swerts J, Munck S, Feiguin F, Dermaut B, Verstreken P. HDAC6 is a Bruchpilot deacetylase that facilitates neurotransmitter release. Cell Reports. 8: 94-102. PMID 24981865 DOI: 10.1016/j.celrep.2014.05.051 |
0.529 |
|
| 2014 |
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Mat?j R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, et al. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathologica. 128: 397-410. PMID 24899140 DOI: 10.1007/S00401-014-1298-7 |
0.416 |
|
| 2014 |
Vanden Broeck L, Callaerts P, Dermaut B. TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis? Trends in Molecular Medicine. 20: 66-71. PMID 24355761 DOI: 10.1016/J.Molmed.2013.11.003 |
0.384 |
|
| 2014 |
Dourlen P, Dermaut B, Grenier-Boley B, Bellenguez C, Dupont C, Abdelfettah F, Schellenberg GD, Lambert J, Williams J, Amouyel P, Seshadri S. Functional Validation Of Novel Alzheimer Genetic Risk Loci Using Drosophila Alzheimers & Dementia. 10: 246. DOI: 10.1016/J.Jalz.2014.04.376 |
0.325 |
|
| 2013 |
Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV, Geller F, Sottejeau Y, Harold D, Dourlen P, Grenier-Boley B, Kamatani Y, Delepine B, Demiautte F, Zelenika D, ... ... Dermaut B, et al. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Molecular Psychiatry. 18: 1225-34. PMID 23399914 DOI: 10.1038/Mp.2013.1 |
0.413 |
|
| 2011 |
Dermaut B, Hansmannel F, Gistelinck M, Mounier A, Chapuis J, Grenier-Boley B, Raphaëlle C, Nadege Z, Maturski ME, Letronne F, Ayral A. Altered expression of the novel AD risk gene BIN1 interacts with the tau but not amyloid pathway in humans and flies Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.09.007 |
0.349 |
|
| 2011 |
Hansmannel F, Mounier A, Gistelinck M, Grenier-Boley B, Maturski ME, Letronne F, Ayral A, Checler F, Buée L, Amouyel P, Dermaut B, Lambert J. Assessment of BIN1 involvement in the Alzheimer's Disease pathophysiological process Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.1117 |
0.303 |
|
| 2010 |
Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, et al. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. Journal of Neurology, Neurosurgery, and Psychiatry. 81: 90-3. PMID 20019223 DOI: 10.1136/Jnnp.2008.157354 |
0.345 |
|
| 2009 |
Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, et al. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiology of Aging. 30: 1329-31. PMID 18068872 DOI: 10.1016/J.Neurobiolaging.2007.11.002 |
0.3 |
|
| 2008 |
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Human Molecular Genetics. 17: 313-22. PMID 17956895 DOI: 10.1093/Hmg/Ddm309 |
0.372 |
|
| 2007 |
Brouwers N, Nuytemans K, van der Zee J, Gijselinck I, Engelborghs S, Theuns J, Kumar-Singh S, Pickut BA, Pals P, Dermaut B, Bogaerts V, De Pooter T, Serneels S, Van den Broeck M, Cuijt I, et al. Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. Archives of Neurology. 64: 1436-46. PMID 17923627 DOI: 10.1001/Archneur.64.10.1436 |
0.375 |
|
| 2006 |
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 442: 920-4. PMID 16862115 DOI: 10.1038/Nature05017 |
0.319 |
|
| 2006 |
Kumar-Singh S, Theuns J, Van Broeck B, Pirici D, Vennekens K, Corsmit E, Cruts M, Dermaut B, Wang R, Van Broeckhoven C. Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. Human Mutation. 27: 686-95. PMID 16752394 DOI: 10.1002/Humu.20336 |
0.368 |
|
| 2006 |
Pirici D, Vandenberghe R, Rademakers R, Dermaut B, Cruts M, Vennekens K, Cuijt I, Lübke U, Ceuterick C, Martin JJ, Van Broeckhoven C, Kumar-Singh S. Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family. Journal of Neuropathology and Experimental Neurology. 65: 289-301. PMID 16651890 DOI: 10.1097/01.Jnen.0000205147.39210.C7 |
0.382 |
|
| 2006 |
van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, ... ... Dermaut B, et al. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain : a Journal of Neurology. 129: 841-52. PMID 16495329 DOI: 10.1093/Brain/Awl029 |
0.377 |
|
| 2006 |
Engelborghs S, Dermaut B, Mariën P, Symons A, Vloeberghs E, Maertens K, Somers N, Goeman J, Rademakers R, Van den Broeck M, Pickut B, Cruts M, Van Broeckhoven C, De Deyn PP. Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia. Neurobiology of Aging. 27: 285-92. PMID 16399213 DOI: 10.1016/J.Neurobiolaging.2005.02.005 |
0.336 |
|
| 2006 |
Brouwers N, Sleegers K, Engelborghs S, Bogaerts V, van Duijn CM, De Deyn PP, Van Broeckhoven C, Dermaut B. The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. Neuroscience Letters. 392: 72-4. PMID 16214290 DOI: 10.1016/J.Neulet.2005.08.064 |
0.388 |
|
| 2006 |
Kumar-Singh S, Theuns J, Broeck BV, Pirici D, Vennekens K, Corsmit E, Cruts M, Dermaut B, Wang R, Broeckhoven CV. P3-395: Mean age-of-onset of familial Alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40 Alzheimers & Dementia. 2. DOI: 10.1016/J.Jalz.2006.05.1665 |
0.377 |
|
| 2006 |
van der Zee J, Dermaut B, Rademakers R, Engelborghs S, Pirici D, Vandenberghe R, Santens P, Caekebeke J, Kumar-Singh S, Martin J, De Deyn PP, Cruts M, Van Broeckhoven C. P3-149: An ancestral haplotype harbors a highly prevalent mutation for 17q21-linked tau-negative FTLD in Belgium Alzheimer's & Dementia. 2: S418-S418. DOI: 10.1016/J.Jalz.2006.05.1417 |
0.327 |
|
| 2005 |
Dermaut B, Kumar-Singh S, Rademakers R, Theuns J, Cruts M, Van Broeckhoven C. Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. Trends in Genetics : Tig. 21: 664-72. PMID 16221505 DOI: 10.1016/J.Tig.2005.09.005 |
0.387 |
|
| 2005 |
Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C. Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample. American Journal of Human Genetics. 77: 643-52. PMID 16175510 DOI: 10.1086/491749 |
0.398 |
|
| 2005 |
Dermaut B, Norga KK, Kania A, Verstreken P, Pan H, Zhou Y, Callaerts P, Bellen HJ. Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer. The Journal of Cell Biology. 170: 127-39. PMID 15998804 DOI: 10.1083/Jcb.200412001 |
0.724 |
|
| 2005 |
Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Human Molecular Genetics. 14: 1753-62. PMID 15888485 DOI: 10.1093/Hmg/Ddi182 |
0.376 |
|
| 2004 |
van der Cammen TJ, Croes EA, Dermaut B, de Jager MC, Cruts M, Van Broeckhoven C, van Duijn CM. Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease. Journal of the American Geriatrics Society. 52: 2110-3. PMID 15571552 DOI: 10.1111/J.1532-5415.2004.52573.X |
0.324 |
|
| 2004 |
Croes EA, Theuns J, Houwing-Duistermaat JJ, Dermaut B, Sleegers K, Roks G, Van den Broeck M, van Harten B, van Swieten JC, Cruts M, Van Broeckhoven C, van Duijn CM. Octapeptide repeat insertions in the prion protein gene and early onset dementia. Journal of Neurology, Neurosurgery, and Psychiatry. 75: 1166-70. PMID 15258222 DOI: 10.1136/Jnnp.2003.020198 |
0.411 |
|
| 2004 |
Helisalmi S, Dermaut B, Hiltunen M, Mannermaa A, Van den Broeck M, Lehtovirta M, Koivisto AM, Iivonen S, Cruts M, Soininen H, Van Broeckhoven C. Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population. Neurology. 63: 173-5. PMID 15249634 DOI: 10.1212/01.Wnl.0000133153.98139.4E |
0.369 |
|
| 2004 |
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Annals of Neurology. 55: 617-26. PMID 15122701 DOI: 10.1002/Ana.20083 |
0.442 |
|
| 2004 |
Croes EA, Alizadeh BZ, Bertoli-Avella AM, Rademaker T, Vergeer-Drop J, Dermaut B, Houwing-Duistermaat JJ, Wientjens DP, Hofman A, Van Broeckhoven C, van Duijn CM. Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. European Journal of Human Genetics : Ejhg. 12: 389-94. PMID 14970845 DOI: 10.1038/Sj.Ejhg.5201161 |
0.329 |
|
| 2004 |
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Peeters K, Claes S, Cruts M, Martin J, De Deyn P, Van Broeckhoven C. O3-05-01 A novel presenilin 1 mutation (gly183val) is associated with pick's disease in the absence of β-amyloid plaques Neurobiology of Aging. 25: S61. DOI: 10.1016/S0197-4580(04)80206-9 |
0.355 |
|
| 2003 |
Cruts M, Dermaut B, Rademakers R, Van den Broeck M, Stögbauer F, Van Broeckhoven C. Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family. Journal of Neurology. 250: 1374-5. PMID 14648157 DOI: 10.1007/S00415-003-0182-5 |
0.414 |
|
| 2003 |
Rademakers R, Dermaut B, Peeters K, Cruts M, Heutink P, Goate A, Van Broeckhoven C. Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Human Mutation. 22: 409-11. PMID 14517953 DOI: 10.1002/Humu.10269 |
0.384 |
|
| 2003 |
Engelborghs S, Dermaut B, Goeman J, Saerens J, Mariën P, Pickut BA, Van den Broeck M, Serneels S, Cruts M, Van Broeckhoven C, De Deyn PP. Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. Journal of Neurology, Neurosurgery, and Psychiatry. 74: 1148-51. PMID 12876259 DOI: 10.1136/Jmg.40.11.814 |
0.328 |
|
| 2003 |
Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Human Mutation. 22: 175-6. PMID 12872260 DOI: 10.1002/Humu.10246 |
0.333 |
|
| 2003 |
Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. European Journal of Human Genetics : Ejhg. 11: 547-9. PMID 12825077 DOI: 10.1038/Sj.Ejhg.5201002 |
0.352 |
|
| 2003 |
Dermaut B, Croes EA, Rademakers R, Van den Broeck M, Cruts M, Hofman A, van Duijn CM, Van Broeckhoven C. PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease. Annals of Neurology. 53: 409-12. PMID 12601712 DOI: 10.1002/Ana.10507 |
0.311 |
|
| 2003 |
Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscular Disorders : Nmd. 13: 133-42. PMID 12565911 DOI: 10.1016/S0960-8966(02)00216-X |
0.372 |
|
| 2002 |
Rademakers R, Cruts M, Dermaut B, Sleegers K, Rosso SM, Van den Broeck M, Backhovens H, van Swieten J, van Duijn CM, Van Broeckhoven C. Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. Molecular Psychiatry. 7: 1064-74. PMID 12476321 DOI: 10.1038/Sj.Mp.4001198 |
0.445 |
|
| 2002 |
Roks G, Cruts M, Houwing-Duistermaat JJ, Dermaut B, Serneels S, Havekes LM, Hofman A, Breteler MM, Van Broeckhoven C, van Duijn CM. Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study. American Journal of Medical Genetics. 114: 570-3. PMID 12116196 DOI: 10.1002/Ajmg.10407 |
0.308 |
|
| 2002 |
Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C. The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. American Journal of Human Genetics. 70: 1568-74. PMID 11992262 DOI: 10.1086/340732 |
0.405 |
|
| 2001 |
Dermaut B, Roks G, Theuns J, Rademakers R, Houwing-Duistermaat JJ, Serneels S, Hofman A, Breteler MM, Cruts M, Van Broeckhoven C, van Duijn CM. Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease. Journal of Neurology. 248: 935-9. PMID 11757955 DOI: 10.1007/S004150170044 |
0.382 |
|
| 2001 |
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. Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. Brain : a Journal of Neurology. 124: 2383-92. PMID 11701593 DOI: 10.1093/Brain/124.12.2383 |
0.416 |
|
| 2001 |
Cruts M, Dermaut B, Rademakers R, Roks G, Van den Broeck M, Munteanu G, van Duijn CM, Van Broeckhoven C. Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease. Neuroscience Letters. 313: 105-7. PMID 11684351 DOI: 10.1016/S0304-3940(01)02234-0 |
0.373 |
|
| 2001 |
Van Everbroeck B, Croes EA, Pals P, Dermaut B, Jansen G, van Duijn CM, Cruts M, Van Broeckhoven C, Martin JJ, Cras P. Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype. Neuroscience Letters. 313: 69-72. PMID 11684342 DOI: 10.1016/S0304-3940(01)02264-9 |
0.369 |
|
| 2001 |
Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Dürr A, Brice A. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain : a Journal of Neurology. 124: 1939-47. PMID 11571212 DOI: 10.1093/Brain/124.10.1939 |
0.431 |
|
| 2001 |
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. The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease. Human Genetics. 108: 552-3. PMID 11499683 DOI: 10.1007/S004390100508 |
0.463 |
|
| 2001 |
Roks G, Cruts M, Slooter AJ, Dermaut B, Hofman A, Van Broeckhoven C, Van Duijn CM. The cystatin C polymorphism is not associated with early onset Alzheimer's disease. Neurology. 57: 366-7. PMID 11468337 DOI: 10.1212/Wnl.57.2.366-A |
0.377 |
|
| 2001 |
Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nature Genetics. 28: 211-2. PMID 11431686 DOI: 10.1038/90034 |
0.341 |
|
| 2000 |
Croes EA, Dermaut B, van Der Cammen TJ, van Broeckhoven C, van Duijn CM. Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia. American Journal of Human Genetics. 67: 1033-5. PMID 10986048 DOI: 10.1086/303074 |
0.394 |
|
| 2000 |
Koster MN, Dermaut B, Cruts M, Houwing-Duistermaat JJ, Roks G, Tol J, Ott A, Hofman A, Munteanu G, Breteler MM, van Duijn CM, Van Broeckhoven C. The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis. Neurology. 55: 678-84. PMID 10980733 DOI: 10.1212/Wnl.55.5.678 |
0.319 |
|
| 2000 |
Dermaut B, Cruts M, Backhovens H, Lübke U, Van Everbroeck B, Sciot R, Dom R, Martin JJ, Van Broeckhoven C, Cras P. Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. Journal of Neurology. 247: 364-8. PMID 10896268 DOI: 10.1007/S004150050603 |
0.392 |
|
| 2000 |
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. Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Human Molecular Genetics. 9: 325-31. PMID 10655540 DOI: 10.1093/Hmg/9.3.325 |
0.458 |
|
| 2000 |
Duijn CMV, Koster MN, Dermaut B, Cruts M, Houwing-Duistermaat JJ, Hofman A, Breteler MMB, Broeckhoben CV. The alpha-2 macroglobulin gene in Alzheimer's disease: A population-based study and meta-analysis Neurobiology of Aging. 21: 63. DOI: 10.1016/S0197-4580(00)82507-5 |
0.304 |
|
| 2000 |
Dermaut B, Roks G, Tol J, Rademakers R, Cruts M, Houwing-Duistermaat JJ, Broeckhoven CV, Duijn CMv. Association study between a promoter polymorphism in the presenilin 1 gene and late-onset Alzheimer's disease Neurobiology of Aging. 21: 177. DOI: 10.1016/S0197-4580(00)82133-8 |
0.419 |
|
| 1999 |
Roks G, Dermaut B, Heutink P, Julliams A, Backhovens H, Van de Broeck M, Serneels S, Hofman A, Van Broeckhoven C, van Duijn CM, Cruts M. Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neuroscience Letters. 277: 137-9. PMID 10624829 DOI: 10.1016/S0304-3940(99)00861-7 |
0.449 |
|
| 1999 |
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, et al. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Human Molecular Genetics. 8: 1529-40. PMID 10401002 DOI: 10.1093/Hmg/8.8.1529 |
0.393 |
|
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