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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: kruger r. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
Mutation analysis of the neurofilament M gene in Parkinson's disease.
Krüger R, Fischer C, Schulte T, Strauss KM, Müller T, Woitalla D, Berg D, Hungs M, Gobbele R, Berger K, Epplen JT, Riess O, Schöls L. Krüger R, et al. Neurosci Lett. 2003 Nov 13;351(2):125-9. doi: 10.1016/s0304-3940(03)00903-0. Neurosci Lett. 2003. PMID: 14583397
UCHL1 is a Parkinson's disease susceptibility gene.
Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, Krüger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JP, de Andrade M, Rocca WA; UCHL1 Global Genetics Consortium. Maraganore DM, et al. Among authors: kruger r. Ann Neurol. 2004 Apr;55(4):512-21. doi: 10.1002/ana.20017. Ann Neurol. 2004. PMID: 15048890
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O. Hering R, et al. Among authors: kruger r. Hum Mutat. 2004 Oct;24(4):321-9. doi: 10.1002/humu.20089. Hum Mutat. 2004. PMID: 15365989
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Krüger R. Strauss KM, et al. Among authors: kruger r. Hum Mol Genet. 2005 Aug 1;14(15):2099-111. doi: 10.1093/hmg/ddi215. Epub 2005 Jun 16. Hum Mol Genet. 2005. PMID: 15961413
1,066 results