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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Hutton M, et al. Among authors: hillebrand m. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
Induction of glucose oxidase, catalase, and lactonase in Aspergillus niger.
Witteveen FB, van de Vondervoort PJ, van den Broeck HC, van Engelenburg AC, de Graaff LH, Hillebrand MH, Schaap PJ, Visser J. Witteveen FB, et al. Among authors: hillebrand mh. Curr Genet. 1993 Nov;24(5):408-16. doi: 10.1007/BF00351849. Curr Genet. 1993. PMID: 8299156
Cathepsin D deficiency is associated with a human neurodegenerative disorder.
Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J. Steinfeld R, et al. Among authors: hillebrand m. Am J Hum Genet. 2006 Jun;78(6):988-98. doi: 10.1086/504159. Epub 2006 Mar 29. Am J Hum Genet. 2006. PMID: 16685649 Free PMC article.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J. Huppke P, et al. Among authors: hillebrand m. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Am J Hum Genet. 2012. PMID: 22243965 Free PMC article.
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Lazarov E, Hillebrand M, Schröder S, Ternka K, Hofhuis J, Ohlenbusch A, Barrantes-Freer A, Pardo LA, Fruergaard MU, Nissen P, Brockmann K, Gärtner J, Rosewich H. Lazarov E, et al. Among authors: hillebrand m. Neurobiol Dis. 2020 Sep;143:105012. doi: 10.1016/j.nbd.2020.105012. Epub 2020 Jul 10. Neurobiol Dis. 2020. PMID: 32653672 Free article.
Function of the C-terminal domain of the alpha subunit of Escherichia coli RNA polymerase in basal expression and integration host factor-mediated activation of the early promoter of bacteriophage Mu.
van Ulsen P, Hillebrand M, Kainz M, Collard R, Zulianello L, van de Putte P, Gourse RL, Goosen N. van Ulsen P, et al. Among authors: hillebrand m. J Bacteriol. 1997 Jan;179(2):530-7. doi: 10.1128/jb.179.2.530-537.1997. J Bacteriol. 1997. PMID: 8990307 Free PMC article.
Indirect activation occurs through alleviation of H-NS-mediated repression of the Pe promoter (P. Van Ulsen, M. Hillebrand, L. Zulianello, P. Van de Putte, and N. Goosen, Mol. Microbiol. 21:567-578, 1996). ...
Indirect activation occurs through alleviation of H-NS-mediated repression of the Pe promoter (P. Van Ulsen, M. Hillebrand, L. …
174 results