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Author/Creator Rugolo, Michela

1. A Novel in‐Frame 18‐bp Microdeletion in MT‐CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance. Issue 8 (28th June 2014)

Authors:
Carossa, Valeria; Ghelli, Anna; Tropeano, Concetta Valentina; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Caporali, Leonardo; La Morgia, Chiara; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Martinuzzi, Andrea; De Nardo, ...
Journal:
Human mutation
Issue:
Volume 35:Issue 8(2014:Aug.)
Page Start:
954
Record Type:
Journal Article
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2. Coenzyme Q biosynthesis inhibition induces HIF‐1α stabilization and metabolic switch toward glycolysis. (20th September 2020)

Authors:
Liparulo, Irene; Bergamini, Christian; Bortolus, Marco; Calonghi, Natalia; Gasparre, Giuseppe; Kurelac, Ivana; Masin, Luca; Rizzardi, Nicola; Rugolo, Michela; Wang, Wenping; Aleo, Serena J.; Kiwan, Alisar; Torri, Cristian; Zanna, Claudia; Fato, Romana
Journal:
FEBS journal
Issue:
Volume 288:Number 6(2021)
Page Start:
1956
Record Type:
Journal Article
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3. Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations. (24th November 2020)

Authors:
Aleo, Serena J; Del Dotto, Valentina; Fogazza, Mario; Maresca, Alessandra; Lodi, Tiziana; Goffrini, Paola; Ghelli, Anna; Rugolo, Michela; Carelli, Valerio; Baruffini, Enrico; Zanna, Claudia
Journal:
Human molecular genetics
Issue:
Volume 29:Number 22(2020)
Page Start:
3631
Record Type:
Journal Article
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4. Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity. (23rd March 2020)

Authors:
Chao de la Barca, Juan Manuel; Fogazza, Mario; Rugolo, Michela; Chupin, Stéphanie; Del Dotto, Valentina; Ghelli, Anna Maria; Carelli, Valerio; Simard, Gilles; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Reynier, Pascal; Zanna, Claudia
Journal:
Human molecular genetics
Issue:
Volume 29:Number 8(2020)
Page Start:
1319
Record Type:
Journal Article
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8. Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Issue 1 (10th June 2015)

Authors:
Carelli, Valerio; Musumeci, Olimpia; Caporali, Leonardo; Zanna, Claudia; La Morgia, Chiara; Del Dotto, Valentina; Porcelli, Anna Maria; Rugolo, Michela; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Barboni, Piero; Carbonelli, Michele; Trombetta, Costantino; Valente, Enza Maria; ...
Journal:
Annals of neurology
Issue:
Volume 78:Issue 1(2015:Jul.)
Page Start:
21
Record Type:
Journal Article
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