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 [Scientific article]
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 [Scientific article]
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 [Scientific article]
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 [Scientific article]
Calvo S.E.; Compton A.G.; Hershman S.G.; Lim S.C.; Lieber D.S.; Tucker E.J.; Laskowski A.; Garone C.; Liu S.; Jaffe D.B.; Christodoulou J.; Fletcher J.M.; Bruno D.L.; Goldblatt J.; DiMauro S.; Thorburn D.R.; Mootha V.K., Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing, «SCIENCE TRANSLATIONAL MEDICINE», 2012, 4, pp. 1 - 28 [Scientific article]
Garone C.; Rubio J.C.; Calvo S.E.; Naini A.; Tanji K.; DiMauro S.; Mootha V.K.; Hirano M., MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions, «ARCHIVES OF NEUROLOGY», 2012, 69, pp. 1648 - 1651 [Scientific article]
Anderson BH; Kasher PR; Mayer J; Szynkiewicz M; Jenkinson EM; Bhaskar SS;
Urquhart JE; Daly SB; Dickerson JE; O'Sullivan J; Leibundgut EO; Muter J;
Abdel-Salem GM; Babul-Hirji R; Baxter P; Berger A; Bonafé L; Brunstom-Hernandez
JE; Buckard JA; Chitayat D; Chong WK; Cordelli DM; Ferreira P; Fluss J; Forrest
EH; Franzoni E; Garone C; Hammans SR; Houge G; Hughes I; Jacquemont S; Jeannet
PY; Jefferson RJ; Kumar R; Kutschke G; Lundberg S; Lourenço CM; Mehta R; Naidu S; Nischal KK; Nunes L; Ounap K; Philippart M; Prabhakar P; Risen SR; Schiffmann R; Soh C; Stephenson JB; Stewart H; Stone J; Tolmie JL; van der Knaap MS; Vieira JP;Vilain CN; Wakeling EL; Wermenbol V; Whitney A; Lovell SC; Meyer S; Livingston JH; Baerlocher GM; Black GC; Rice GI; Crow YJ, Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus, «NATURE GENETICS», 2012, 44, pp. 338 - 342 [Scientific article]
Ronchi D.; Garone C.; Bordoni A.; Gutierrez Rios P.; Calvo S.E.; Ripolone M.; Ranieri M.; Rizzuti M.; Villa L.; Magri F.; Corti S.; Bresolin N.; Mootha V.K.; Moggio M.; Dimauro S.; Comi G.P.; Sciacco M., Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions, «BRAIN», 2012, 135, pp. 3404 - 3415 [Scientific article]
Garone C.; Tadesse S.; Hirano M., Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy, «BRAIN», 2011, 134, pp. 3326 - 3332 [Scientific article]
DiMauro S.; Garone C., Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain, «SEMINARS IN FETAL & NEONATAL MEDICINE», 2011, 16, pp. 181 - 189 [Scientific article]
DiMauro S.; Garone C., Historical perspective on mitochondrial medicine, «DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS», 2010, 16, pp. 106 - 113 [Scientific article]
Dimauro, S.; Garone, C.; Naini, A., Metabolic myopathies, «CURRENT RHEUMATOLOGY REPORTS», 2010, 12, pp. 386 - 393 [Scientific article]
Franzoni E; Monti M; Pellicciari A; Muratore C; Verrotti A; Garone C; Cecconi I; Iero L; Gualandi S; Savarino F; Gualandi P., SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors., «NEUROPSYCHIATRIC DISEASE AND TREATMENT», 2009, 5, pp. 207 - 214 [Scientific article]
Caterina Garone; Ilaria Cecconi; Valentina Marchiani; Emilio Franzoni, Eventi parossistici epilettici e non-epilettici: un caso clinico emblematico per la diagnosi differenziale., in: LICE, riunione policentrica 2008, ROMA, LICE, 2008, pp. 64 - 64 (atti di: riunione policentrica 2008, roma, 16-17 gennaio 2008) [Abstract]
Valentina Marchiani; Caterina Garone; Emilio Franzoni, Complicanze neurologiche a lungo termine, in: SINP, SIMPOSIO PRE-CONGRESSUALE CONGIUNTO SINP – SINPIA – SINC "Floppy Infant", BOLZANO, SINP, 2007, pp. 13 - 14 (atti di: SIMPOSIO PRE-CONGRESSUALE CONGIUNTO SINP – SINPIA – SINC "Floppy Infant", bolzano, Giovedì 8 novembre) [Contribution to conference proceedings]
