GARONE, CATERINA

GARONE, CATERINA  

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Risultati 1 - 20 di 27 (tempo di esecuzione: 0.035 secondi).
Titolo Data di pubblicazione Autore(i) File
A new case of idiopathic hemiplegia hemiconvulsion syndrome. 2010 Franzoni E;Garone C;Marchiani V;Brunetto D;Tonon C;Lodi R;Bernardi B
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 2011 Garone C;Tadesse S;Hirano M
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. 2012 Hirano M;Garone C;Quinzii CM
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 2011 Garone C;Pippucci T;Cordelli DM;Zuntini R;Castegnaro G;Marconi C;Graziano C;Marchiani V;Verrotti A;Seri M;Franzoni E
Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study. 2012 Cordelli DM;Aldrovandi A;Gentile V;Garone C;Conti S;Aceti A;Gennaro E;Zara F;Franzoni E
Historical perspective on mitochondrial medicine. 2010 DiMauro S;Garone C
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 2010 Ramesh V;Bernardi B;Stafa A;Garone C;Franzoni E;Abinun M;Mitchell P;Mitra D;Friswell M;Nelson J;Shalev SA;Rice GI;Gornall H;Szynkiewicz M;Aymard F;Ganesan V;Prendiville J;Livingston JH;Crow YJ
Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): an open-label, parallel group trial. 2007 Coppola G;Franzoni E;Verrotti A;Garone C;Sarajlija J;Operto FF;Pascotto A
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. 2013 Hildick-Smith GJ;Cooney JD;Garone C;Kremer LS;Haack TB;Thon JN;Miyata N;Lieber DS;Calvo SE;Akman HO;Yien YY;Huston NC;Branco DS;Shah DI;Freedman ML;Koehler CM;Italiano JE Jr;Merkenschlager A;Beblo S;Strom TM;Meitinger T;Freisinger P;Donati MA;Prokisch H;Mootha VK;DiMauro S;Paw BH
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. 2011 Dimauro S;Garone C
Metabolic myopathies. 2010 DiMauro S;Garone C;Naini A
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. 2013 Garone C;Donati MA;Sacchini M;Garcia-Diaz B;Bruno C;Calvo S;Mootha VK;Dimauro S
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 2012 Calvo SE;Compton AG;Hershman SG;Lim SC;Lieber DS;Tucker EJ;Laskowski A;Garone C;Liu S;Jaffe DB;Christodoulou J;Fletcher JM;Bruno DL;Goldblatt J;Dimauro S;Thorburn DR;Mootha VK
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. 2012 Garone C;Rubio JC;Calvo SE;Naini A;Tanji K;Dimauro S;Mootha VK;Hirano M
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 2012 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
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. 2012 Ronchi D;Garone C;Bordoni A;Gutierrez Rios P;Calvo SE;Ripolone M;Ranieri M;Rizzuti M;Villa L;Magri F;Corti S;Bresolin N;Mootha VK;Moggio M;DiMauro S;Comi GP;Sciacco M
No kinetic interaction between levetiracetam and cyclosporine: a case report. 2007 Franzoni E;Sarajlija J;Garone C;Malaspina E;Marchiani V
Open prospective study on oxcarbazepine in epilepsy in children: a preliminary report. 2006 Franzoni E;Garone C;Sarajlija J;Gualandi S;Malaspina E;Cecconi I;Moscano FC;Marchiani V
Preliminary report on effects of oxcarbazepine-treatment on serum lipid levels in children. 2006 Franzoni E;Marchiani V;Cecconi I;Moscano FC;Gualandi S;Garone C;Sarajlija J;Malaspina E
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). 2010 Cordelli DM;Garone C;Marchiani V;Lodi R;Tonon C;Ferrari S;Seri M;Franzoni E