Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
about
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
description
im März 2019 veröffentlicher wissenschaftlicher Artikel
@de
scientific article published on 25 March 2019
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2019
@uk
name
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@en
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@nl
type
label
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@en
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@nl
prefLabel
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@en
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@nl
P2093
P50
P1476
Pathogenic variants in the AFG ...... stress-driven OMA1 activation
@en
P2093
Andrea Del Bondio
Camilo Toro
Cyril Goizet
Dagmar Nolte
Franca Codazzi
Giorgio Casari
Jonathan Baets
Paola Mandich
Peter DeJonghe
Susanna Tulli
P304
P356
10.1136/JMEDGENET-2018-105766
P407
P577
2019-03-25T00:00:00Z