Overview of included studies for PARK-PINK1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Norman, 2017 Family study none 1 D n.g. 29 p.Ala217Asp: hom
Taghavi, 2017 Mutational screen none 6 n.g. 33% 28(+/-9) p.Arg246*: hom
Spataro, 2017 Mutational screen none 1 C 0% 40 p.Trp90*: hom
Ben El Haj, 2016 Family study none 1 n.g. 100% 54 p.Leu539Phe: hom
Halder, 2015 Mutational screen none 1 n.g. 100% 31 p.Gln267*: hom
Al-Mubarak, 2015 Mutational screen none 3 n.g. 67% 50(+/-17) p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015 Mutational screen none 3 O 33% 50(+/-17) p.Leu347Pro: hom
Siuda, 2014 Family study none 2 C 50% 22(+/-8) p.Gln456*: hom
Monroy-Jaramillo, 2014 Mutational screen <45 9 O 67% 30(+/-8) c.(?_-94)_(387+1_388-1)del: hom
c.(776+1_777-1)_(1123+1_1124-1)del
+ c.(387+1_388-1)_(675+1_676-1)del: comp. het.
c.(959+1_960-1)_(1123+1_1124-1)dup
+ c.(387+1_388-1)_(675+1_676-1)dup: comp. het.
p.Tyr444Metfs*39: hom
p.Cys92Alafs*15: hom
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Koziorowski, 2013 Mutational screen <45 1 C 0% n.g. p.Ile368Asn: hom