Overview of included studies for PARK-DJ1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Taghavi, 2017Mutational screennone2n.g.n.g.27 (+/-0)p.Asp24Metfs*3: hom
Di Nottia, 2017Case report / Case seriesnone1Cn.g.35p.Thr154Lys: hom
Abbas, 2016Mutational screennone1n.g.n.g.22p.Ile105Phe: hom
Erer, 2016Mutational screen<491n.g.n.g.23c.322+4A>C: hom
Taipa, 2016Case report / Case seriesnone1n.g.n.g.22p.Leu172Gln: hom
Hanagasi, 2016Family studynone3n.g.n.g.27 (+/-7)p.Gln45*: hom
Darvish, 2013Mutational screennone3On.g.n.g.c.(252+1_253-1)_(322+1_323-1)del: hom
Ghazavi, 2011Mutational screennone2n.g.n.g.20 (+/-4)c.91-2A>G: hom
p.Ala107Pro: hom
Macedo, 2009Mutational screen<501n.g.n.g.34p.Pro158del: hom
Tarantino, 2009Other / Mixednone1n.g.n.g.38c.252+8dupA + c.-24+66C>G: comp. het.
Guo, 2008Other / Mixednone2An.g.19 (+/-1)p.Leu10Pro: hom
Annesi, 2005Family studynone2n.g.n.g.24p.Glu163Lys: hom
Hering, 2004Other / Mixednone1n.g.n.g.34p.Glu64Asp: hom
Abou-Sleiman, 2003Mutational screen<391JAn.g.39p.Met26Ile: hom
Hague, 2003Mutational screennone1Hn.g.n.g.p.Thr19Lysfs*5 + c.410-1G>C: comp. het.
Bonifati, 2003Family studynone7n.g.n.g.31 (+/-5)c.-4069_322+1852del: hom
p.Leu166Pro: hom