Garone C.; Viscomi C., Towards a therapy for mitochondrial disease: An update, «BIOCHEMICAL SOCIETY TRANSACTIONS», 2018, 46, pp. 1247 - 1261 [articolo]
Garone C.; Gurgel-Giannetti J.; Sanna-Cherchi S.; Krishna S.; Naini A.; Quinzii C.M.; Hirano M., A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder, «JOURNAL OF CHILD NEUROLOGY», 2017, 32, pp. 246 - 250 [articolo]
Feichtinger R.G.; Olahova M.; Kishita Y.; Garone C.; Kremer L.S.; Yagi M.; Uchiumi T.; Jourdain A.A.; Thompson K.; D'Souza A.R.; Kopajtich R.; Alston C.L.; Koch J.; Sperl W.; Mastantuono E.; Strom T.M.; Wortmann S.B.; Meitinger T.; Pierre G.; Chinnery P.F.; Chrzanowska-Lightowlers Z.M.; Lightowlers R.N.; DiMauro S.; Calvo S.E.; Mootha V.K.; Moggio M.; Sciacco M.; Comi G.P.; Ronchi D.; Murayama K.; Ohtake A.; Rebelo-Guiomar P.; Kohda M.; Kang D.; Mayr J.A.; Taylor R.W.; Okazaki Y.; Minczuk M.; Prokisch H., Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies, «AMERICAN JOURNAL OF HUMAN GENETICS», 2017, 101, pp. 525 - 538 [articolo]
Garone C.; D'Souza A.R.; Dallabona C.; Lodi T.; Rebelo-Guiomar P.; Rorbach J.; Donati M.A.; Procopio E.; Montomoli M.; Guerrini R.; Zeviani M.; Calvo S.E.; Mootha V.K.; DiMauro S.; Ferrero I.; Minczuk M., Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome, «HUMAN MOLECULAR GENETICS», 2017, 26, pp. 4257 - 4266 [articolo]
Lopez-Gomez C.; Levy R.J.; Sanchez-Quintero M.J.; Juanola-Falgarona M.; Barca E.; Garcia-Diaz B.; Tadesse S.; Garone C.; Hirano M., Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency, «ANNALS OF NEUROLOGY», 2017, 81, pp. 641 - 652 [articolo]Open Access
Emmanuele V.; Kubota A.; Garcia-Diaz B.; Garone C.; Akman H.O.; Sanchez-Gutierrez D.; Escudero L.M.; Kariya S.; Homma S.; Tanji K.; Quinzii C.M.; Hirano M., Fhl1 W122S causes loss of protein function and late-onset mild myopathy, «HUMAN MOLECULAR GENETICS», 2015, 24, pp. 714 - 726 [articolo]
Garcia-Diaz B.; Garone C.; Barca E.; Mojahed H.; Gutierrez P.; Pizzorno G.; Tanji K.; Arias-Mendoza F.; Quinzii C.M.; Hirano M., Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy, «BRAIN», 2014, 137, pp. 1337 - 1349 [articolo]
Garone C.; Garcia-Diaz B.; Emmanuele V.; Lopez L.C.; Tadesse S.; Akman H.O.; Tanji K.; Quinzii C.M.; Hirano M., Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency, «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 1016 - 1027 [articolo]
Kariya S.; Obis T.; Garone C.; Akay T.; Sera F.; Iwata S.; Homma S.; Monani U.R., Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation, «THE JOURNAL OF CLINICAL INVESTIGATION», 2014, 124, pp. 785 - 800 [articolo]
Yien Y.Y.; Robledo R.F.; Schultz I.J.; Takahashi-Makise N.; Gwynn B.; Bauer D.E.; Dass A.; Yi G.; Li L.; Hildick-Smith G.J.; Cooney J.D.; Pierce E.L.; Mohler K.; Dailey T.A.; Miyata N.; Kingsley P.D.; Garone C.; Hattangadi S.M.; Huang H.; Chen W.; Keenan E.M.; Shah D.I.; Schlaeger T.M.; Dimauro S.; Orkin S.H.; Cantor A.B.; Palis J.; Koehler C.M.; Lodish H.F.; Kaplan J.; Ward D.M.; Dailey H.A.; Phillips J.D.; Peters L.L.; Paw B.H., TMEM14C is required for erythroid mitochondrial heme metabolism, «THE JOURNAL OF CLINICAL INVESTIGATION», 2014, 124, pp. 4294 - 4304 [articolo]
Hildick-Smith G.J.; Cooney J.D.; Garone C.; Kremer L.S.; Haack T.B.; Thon J.N.; Miyata N.; Lieber D.S.; Calvo S.E.; Akman H.O.; Yien Y.Y.; Huston N.C.; Branco D.S.; Shah D.I.; Freedman M.L.; Koehler C.M.; Italiano Jr. J.E.; Merkenschlager A.; Beblo S.; Strom T.M.; Meitinger T.; Freisinger P.; Donati M.A.; Prokisch H.; Mootha V.K.; DiMauro S.; Paw B.H., Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4, «AMERICAN JOURNAL OF HUMAN GENETICS», 2013, 93, pp. 906 - 914 [articolo]
Garone C.; Donati M.A.; Sacchini M.; Garcia-Diaz B.; Bruno C.; Calvo S.; Mootha V.K.; DiMauro S., Mitochondrial encephalomyopathy due to a novel mutation in ACAD9, «JAMA NEUROLOGY», 2013, 70, pp. 1177 - 1179 [articolo]
Manoli I.; Sysol J.R.; Li L.; Houillier P.; Garone C.; Wang C.; Zerfas P.M.; Cusmano-Ozog K.; Young S.; Trivedi N.S.; Cheng J.; Sloan J.L.; Chandler R.J.; Abu-Asab M.; Tsokos M.; Elkahloun A.G.; Rosen S.; Enns G.M.; Berry G.T.; Hoffmann V.; DiMauro S.; Schnermann J.; Venditti C.P., Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia, «PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA», 2013, 110, pp. 13552 - 13557 [articolo]
Quinzii C.M.; Garone C.; Emmanuele V.; Tadesse S.; Krishna S.; Dorado B.; Hirano M., Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice, «FASEB JOURNAL», 2013, 27, pp. 612 - 621 [articolo]
Hirano M.; Garone C.; Quinzii C.M., CoQ 10 deficiencies and MNGIE: Two treatable mitochondrial disorders, «BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS», 2012, 1820, pp. 625 - 631 [articolo]
