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A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.
Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. Buervenich S, et al. Among authors: wullner u. Arch Neurol. 2005 Jan;62(1):74-8. doi: 10.1001/archneur.62.1.74. Arch Neurol. 2005. PMID: 15642852
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.
Kamm C, Healy DG, Quinn NP, Wüllner U, Moller JC, Schols L, Geser F, Burk K, Børglum AD, Pellecchia MT, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees AJ, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann HE, Wenning GK, Wood NW, Gasser T; European Multiple System Atrophy Study Group. Kamm C, et al. Among authors: wullner u. Brain. 2005 Aug;128(Pt 8):1855-60. doi: 10.1093/brain/awh535. Epub 2005 Jun 9. Brain. 2005. PMID: 15947063
Genes associated with Parkinson syndrome.
Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wüllner U, Gasser T. Biskup S, et al. Among authors: wullner u. J Neurol. 2008 Sep;255 Suppl 5:8-17. doi: 10.1007/s00415-008-5005-2. J Neurol. 2008. PMID: 18787878 Review.
SNCA variants are associated with increased risk for multiple system atrophy.
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. Scholz SW, et al. Among authors: wullner u. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
253 results