Overview of included studies for PARK-PINK1:
Filter for
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Darvish, 2013Mutational screennone7On.g.25c.(387+1_388-1)_(675+1_676-1)del + c.(387+1_388-1)_(959+1_960-1)del: comp. het.
c.(776+1_777-1)_(959+1_960-1)del: hom
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Kilarski, 2012Mutational screen<441An.g.29p.Leu347Pro: hom
Lohmann, 2012Other / Mixednone3n.g.n.g.40 (+/-10)p.Leu31*: hom
p.Pro416Leu: hom
Scornaienchi, 2012Mutational screennone3n.g.n.g.41 (+/-13)p.Gln126Pro: hom
p.Trp437*: hom
p.Gln456*: hom
Samaranch, 2010Family studynone6n.g.n.g.30 (+/-10)p.Leu485_Arg497del: hom
p.Glu417_Arg497del + p.Leu485_Arg497del: comp. het.
Keyser, 2010Mutational screen<503In.g.43 (+/-5)p.Tyr258*: hom
Cazeneuve, 2009Family studynone3n.g.n.g.16 (+/-5)deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2: hom
Camargos, 2009Mutational screennone1n.g.n.g.24c.(1251+1_1252-1)_(1488+1_1489-1)del: hom
Myhre, 2008Family studynone4n.g.n.g.30 (+/-7)p.Pro416Arg: hom
p.Ser419Pro: hom
Guo, 2008Other / Mixednone4An.g.26 (+/-10)p.Thr313Met: hom
p.Arg492*: hom