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Author/Creator Desbats, Maria Andrea

1. Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. Issue 1 (17th October 2012)

Authors:
Doimo, Mara; Desbats, Maria Andrea; Baldoin, Maria Cristina; Lenzini, Elisabetta; Basso, Giuseppe; Murphy, Elaine; Graziano, Claudio; Seri, Marco; Burlina, Alberto; Sartori, Geppo; Trevisson, Eva; Salviati, Leonardo
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
229
Record Type:
Journal Article
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3. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. Issue 3 (24th February 2012)

Authors:
Salviati, Leonardo; Trevisson, Eva; Rodriguez Hernandez, Maria Angeles; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Cassina, Matteo; Agosto, Caterina; Desbats, Maria Andrea; Sartori, Geppo; Sacconi, Sabrina; Memo, Luigi; Zuffardi, Orsetta; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvat...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 3(2012)
Page Start:
187
Record Type:
Journal Article
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4. Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients. (13th January 2017)

Authors:
Borgia, Doriana; Malena, Adriana; Spinazzi, Marco; Desbats, Maria Andrea; Salviati, Leonardo; Russell, Aaron P.; Miotto, Giovanni; Tosatto, Laura; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria; Vergani, Lodovica
Journal:
Human molecular genetics
Issue:
Volume 26:Number 6(2017:Mar. 15)
Page Start:
1087
Record Type:
Journal Article
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5. Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients. (13th January 2017)

Authors:
Borgia, Doriana; Malena, Adriana; Spinazzi, Marco; Desbats, Maria Andrea; Salviati, Leonardo; Russell, Aaron P.; Miotto, Giovanni; Tosatto, Laura; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria; Vergani, Lodovica
Journal:
Human molecular genetics
Issue:
Volume 26:Number 6(2017:Mar. 15)
Page Start:
1087
Record Type:
Journal Article
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6. Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function. Issue 3 (18th December 2017)

Authors:
Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo
Journal:
Human mutation
Issue:
Volume 39:Issue 3(2018)
Page Start:
406
Record Type:
Journal Article
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7. Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6. (10th July 2019)

Authors:
Acosta Lopez, Manuel J.; Trevisson, Eva; Canton, Marcella; Vazquez-Fonseca, Luis; Morbidoni, Valeria; Baschiera, Elisa; Frasson, Chiara; Pelosi, Ludovic; Rascalou, Bérengère; Desbats, Maria Andrea; Alcázar-Fabra, María; Ríos, José Julián; Sánchez-García, Alicia; Basso, Giuseppe; Navas, Placido; P...
Other Names:
Hool Livia Guest Editor.
Journal:
Oxidative medicine and cellular longevity
Issue:
Volume 2019(2019)
Page Start:
Record Type:
Journal Article
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