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Title: Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients
Authors: Berg D.
Niwar M.
Maass S.
Zimprich A.
Möller J.C.
Wuellner U.
Schmitz-Hübsch T.
Klein C.
Tan E.-K. 
Schöls L.
Marsh L.
Dawson T.M.
Janetzky B.
Müller T.
Woitalla D.
Kostic V.
Pramstaller P.P.
Oertel W.H.
Bauer P.
Krueger R.
Gasser T.
Riess O.
Keywords: Alpha-synuclein
Mutational screening
Parkinson's disease
Silent mutation
Issue Date: 2005
Publisher: Wiley
Citation: Berg D., Niwar M., Maass S., Zimprich A., Möller J.C., Wuellner U., Schmitz-Hübsch T., Klein C., Tan E.-K., Schöls L., Marsh L., Dawson T.M., Janetzky B., Müller T., Woitalla D., Kostic V., Pramstaller P.P., Oertel W.H., Bauer P., Krueger R., Gasser T., Riess O. (2005). Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients. Movement Disorders 20 (9) : 1191-1194. ScholarBank@NUS Repository.
Abstract: Data on the frequency of ?-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the ?-synuclein gene are rare and suggest that other factors contribute to ?-synuclein aggregation in the majority of PD patients. 2005 Movement Disorder Society.
Source Title: Movement Disorders
ISSN: 08853185
DOI: 10.1002/mds.20504
Appears in Collections:Staff Publications

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