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736 results
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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.
Matimba A, Del-Favero J, Van Broeckhoven C, Masimirembwa C. Matimba A, et al. Among authors: van broeckhoven c. Hum Genomics. 2009 Jan;3(2):169-90. doi: 10.1186/1479-7364-3-2-169. Hum Genomics. 2009. PMID: 19164093 Free PMC article.
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: van duijn cm, van broeckhoven cv, van den broeck mv. Hum Mol Genet. 2000 Feb 12;9(3):325-31. doi: 10.1093/hmg/9.3.325. Hum Mol Genet. 2000. PMID: 10655540
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Van Goethem G, et al. Among authors: van broeckhoven c. Eur J Hum Genet. 2003 Jul;11(7):547-9. doi: 10.1038/sj.ejhg.5201002. Eur J Hum Genet. 2003. PMID: 12825077
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
Van Goethem G, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Among authors: van broeckhoven c. Neuromolecular Med. 2003;3(3):129-46. doi: 10.1385/NMM:3:3:129. Neuromolecular Med. 2003. PMID: 12835509 Review.
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.
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
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, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C. Cruts M, et al. Among authors: van den broeck m, van der zee j, van duijn c, van broeckhoven c. Nature. 2006 Aug 24;442(7105):920-4. doi: 10.1038/nature05017. Epub 2006 Jul 16. Nature. 2006. PMID: 16862115
Locus-specific mutation databases for neurodegenerative brain diseases.
Cruts M, Theuns J, Van Broeckhoven C. Cruts M, et al. Among authors: van broeckhoven c. Hum Mutat. 2012 Sep;33(9):1340-4. doi: 10.1002/humu.22117. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22581678 Free PMC article.
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Meuleman J, Pou-Serradell A, Löfgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P. Meuleman J, et al. Among authors: van broeckhoven c. Neuromuscul Disord. 2001 May;11(4):400-3. doi: 10.1016/s0960-8966(00)00214-5. Neuromuscul Disord. 2001. PMID: 11369192
Charcot-Marie-Tooth disease and related peripheral neuropathies.
De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: van broeckhoven c. J Peripher Nerv Syst. 1997;2(4):370-87. J Peripher Nerv Syst. 1997. PMID: 10975746 Review.
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C. De Jonghe P, et al. Among authors: van maldergem l, van broeckhoven c. Brain. 1999 Feb;122 ( Pt 2):281-90. doi: 10.1093/brain/122.2.281. Brain. 1999. PMID: 10071056
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