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R Bandopadhyay et al.
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C Paisán-Ruíz et al.
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Significant linkage of Parkinson disease to chromosome 2q36-37
N Pankratz et al.
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V Bonifati et al.
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AA Hicks et al.
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YC Liu et al.
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N Pankratz et al.
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M Funayama et al.
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