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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.
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
UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.
Healy DG, Abou-Sleiman PM, Quinn N, Ahmadi KR, Ozawa T, Kamm C, Wullner U, Oertel WH, Burk K, Dupont E, Pellecchia MT, Tolosa E, Gasser T, Holton JL, Revesz T, Goldstein DB, Lees AJ, Wood NW; European MSA Study Group. Healy DG, et al. Among authors: wullner u. Mov Disord. 2005 Oct;20(10):1338-43. doi: 10.1002/mds.20575. Mov Disord. 2005. PMID: 16007636
The alpha-synuclein gene in multiple system atrophy.
Ozawa T, Healy DG, Abou-Sleiman PM, Ahmadi KR, Quinn N, Lees AJ, Shaw K, Wullner U, Berciano J, Moller JC, Kamm C, Burk K, Josephs KA, Barone P, Tolosa E, Goldstein DB, Wenning G, Geser F, Holton JL, Gasser T, Revesz T, Wood NW; European MSA study group. Ozawa T, et al. Among authors: wullner u. J Neurol Neurosurg Psychiatry. 2006 Apr;77(4):464-7. doi: 10.1136/jnnp.2005.073528. J Neurol Neurosurg Psychiatry. 2006. PMID: 16543523 Free PMC article.
256 results