Kullar, P. J.; Gomez-Duran, A.; Gammage, P. A.; Garone, C.; Minczuk, M.; Golder, Z.; Wilson, J.; Montoya, J.; Hakli, S.; Karppa, M.; Horvath, R.; Majamaa, K.; Chinnery, P. F., Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family, «BRAIN», 2018, 141, pp. 55 - 62 [articolo]
Pacitti, Dario; Levene, Michelle; Garone, Caterina; Nirmalananthan, Niranjanan; Bax, Bridget E, Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far, «FRONTIERS IN GENETICS», 2018, 9, Article number: 669, pp. 1 - 22 [articolo]
Garone, C.; Taylor, R. W.; Nascimento, A.; Poulton, J.; Fratter, C.; Dominguez-Gonzalez, C.; Evans, J. C.; Loos, M.; Isohanni, P.; Suomalainen, A.; Ram, D.; Imelda Hughes, M.; Mcfarland, R.; Barca, E.; Gomez, C. L.; Jayawant, S.; Thomas, N. D.; Manzur, A. Y.; Kleinsteuber, K.; Martin, M. A.; Kerr, T.; Gorman, G. S.; Sommerville, E. W.; Chinnery, P. F.; Hofer, M.; Karch, C.; Ralph, J.; Camara, Y.; Madruga-Garrido, M.; Dominguez-Carral, J.; Ortez, C.; Emperador, S.; Montoya, J.; Chakrapani, A.; Kriger, J. F.; Schoenaker, R.; Levin, B.; Thompson, J. L. P.; Long, Y.; Rahman, S.; Donati, M. A.; Dimauro, S.; Hirano, M., Retrospective natural history of thymidine kinase 2 deficiency, «JOURNAL OF MEDICAL GENETICS», 2018, 55, pp. 515 - 521 [articolo]
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]
