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Valentina Baderna
Valentina Baderna
Vita-Salute San Raffaele University
Genetics
Biology
Spinocerebellar ataxia
Frameshift mutation
Cell biology
2
Papers
14
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0
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A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
2020
Acta neuropathologica communications
Valentina Baderna
Joshua Schultz
Lisa S. Kearns
Michael C Fahey
Bryony A. Thompson
Jonathan B Ruddle
Aamira Huq
Francesca Maltecca
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Citations (3)
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
2019
Journal of Medical Genetics
Susanna Tulli
Andrea Del Bondio
Valentina Baderna
Davide Mazza
Franca Codazzi
Tyler Mark Pierson
Alessandro Ambrosi
Dagmar Nolte
Cyril Goizet
Camilo Toro
Jonathan Baets
Tine Deconinck
Peter DeJonghe
Paola Mandich
Giorgio Casari
Francesca Maltecca
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Citations (11)
1