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Mutations in CIZ1 cause adult onset primary cervical dystonia.
Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K, LeDoux MS. Xiao J, et al. Among authors: auburger g. Ann Neurol. 2012 Apr;71(4):458-69. doi: 10.1002/ana.23547. Epub 2012 Mar 23. Ann Neurol. 2012. PMID: 22447717 Free PMC article.
Phenotypic variability of the DYT1 mutation in German dystonia patients.
Leube B, Kessler KR, Ferbert A, Ebke M, Schwendemann G, Erbguth F, Benecke R, Auburger G. Leube B, et al. Among authors: auburger g. Acta Neurol Scand. 1999 Apr;99(4):248-51. doi: 10.1111/j.1600-0404.1999.tb07356.x. Acta Neurol Scand. 1999. PMID: 10225357
Primary torsion dystonia: the search for genes is not over.
Jarman PR, del Grosso N, Valente EM, Leube B, Cassetta E, Bentivoglio AR, Waddy HM, Uitti RJ, Maraganore DM, Albanese A, Frontali M, Auburger G, Bressman SB, Wood NW, Nygaard TG. Jarman PR, et al. Among authors: auburger g. J Neurol Neurosurg Psychiatry. 1999 Sep;67(3):395-7. doi: 10.1136/jnnp.67.3.395. J Neurol Neurosurg Psychiatry. 1999. PMID: 10449567 Free PMC article.
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Elbaz A, et al. Ann Neurol. 2011 May;69(5):778-92. doi: 10.1002/ana.22321. Epub 2011 Mar 9. Ann Neurol. 2011. PMID: 21391235 Free PMC article.
229 results