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Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
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, Mattheijssens M, Peeters K, Sciot R, Martin JJ, Cras P, Santens P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K. Brouwers N, et al. Among authors: pals p. Arch Neurol. 2007 Oct;64(10):1436-46. doi: 10.1001/archneur.64.10.1436. Arch Neurol. 2007. PMID: 17923627
Progranulin variability has no major role in Parkinson disease genetic etiology.
Nuytemans K, Pals P, Sleegers K, Engelborghs S, Corsmit E, Peeters K, Pickut B, Mattheijssens M, Cras P, De Deyn PP, Theuns J, Van Broeckhoven C. Nuytemans K, et al. Among authors: pals p. Neurology. 2008 Oct 7;71(15):1147-51. doi: 10.1212/01.wnl.0000327563.10320.2b. Neurology. 2008. PMID: 18838661
GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population.
Meeus B, Nuytemans K, Crosiers D, Engelborghs S, Pals P, Pickut B, Peeters K, Mattheijssens M, Corsmit E, Cras P, De Deyn PP, Theuns J, Van Broeckhoven C. Meeus B, et al. Among authors: pals p. Neurobiol Aging. 2011 Feb;32(2):308-12. doi: 10.1016/j.neurobiolaging.2009.02.016. Epub 2009 Mar 24. Neurobiol Aging. 2011. PMID: 19321232
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.
Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK. Haugarvoll K, et al. Among authors: pals p. Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. doi: 10.1212/01.wnl.0000304044.22253.03. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337586 Free PMC article.
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G, Pals P, Hamouda NN, Engelborghs S, Martin JJ, Eggermont J, De Deyn PP, Cras P, Baekelandt V, Vangheluwe P, Van Broeckhoven C; BELNEU consortium. Martin S, et al. Among authors: pals p. Acta Neuropathol. 2020 Jun;139(6):1001-1024. doi: 10.1007/s00401-020-02145-7. Epub 2020 Mar 14. Acta Neuropathol. 2020. PMID: 32172343 Free PMC article.
33 results