Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

Background Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early‐onset parkinsonism. Methods We evaluated five affected PINK1 homozygous and 14 heterozygous mutation carriers from two large Italian families over a 12‐year follow‐up period. Motor, nonmotor, cogni...

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Veröffentlicht in:Movement disorders 2014-10, Vol.29 (12), p.1561-1566
Hauptverfasser: Ricciardi, Lucia, Petrucci, Simona, Guidubaldi, Arianna, Ialongo, Tamara, Serra, Laura, Ferraris, Alessandro, Spanò, Barbara, Bozzali, Marco, Valente, Enza Maria, Bentivoglio, Anna Rita
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