Sfoglia per Autore
Malformazioni dello sviluppo del lobo temporale, epilessia ed autismo
2008 G.Barcia; M.Santucci; M.C.Scaduto; A.Posar; C.Garone; G.G.Salerno; M.Monti; M.R.Tedde; B.Bernardi
Epilessia del lobo temporale sintomatica: evoluzione clinica, neuropsicologica e neuroradiologica
2008 C. Garone; A. Posar; A. Parmeggiani
Sindrome 22q13:descrizione di due casi clinici
2008 C. Garone; A. Posar; M.C. Scaduto; A. Parmeggiani
Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy.
2009 Franzoni E.; Gentile V.; Pellicciari A.; Garone C.; Iero L.; Gualandi S.; Cordelli D.M.; Cecconi I.; Moscano F.C.; Marchiani V.; Errani A.
Lo stroke in età pediatrica
2009 Franzoni E.; Salerno G.G.; Valenti V.; Garone C.; Cecconi I.; Cordelli D.M.; Marchiani V.
SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors.
2009 Franzoni E; Monti M; Pellicciari A; Muratore C; Verrotti A; Garone C; Cecconi I; Iero L; Gualandi S; Savarino F; Gualandi P.
Historical perspective on mitochondrial medicine
2010 DiMauro S.; Garone C.
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).
2010 Cordelli D.M.; Garone C.; Marchiani V.; Lodi R.; Tonon C.; Ferrari S.; Seri M.; Franzoni E.
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
Metabolic myopathies
2010 DiMauro S.; Garone C.; Naini A.
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.
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.
Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain
2011 DiMauro S.; Garone C.
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
CoQ 10 deficiencies and MNGIE: Two treatable mitochondrial disorders
2012 Hirano M.; Garone C.; Quinzii C.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
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
2012 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.
MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions
2012 Garone C.; Rubio J.C.; Calvo S.E.; Naini A.; Tanji K.; DiMauro S.; Mootha V.K.; Hirano M.
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 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.
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Malformazioni dello sviluppo del lobo temporale, epilessia ed autismo | G.Barcia; M.Santucci; M.C.Scaduto; A.Posar; C.Garone; G.G.Salerno; M.Monti; M.R.Tedde; B.Bernardi | 2008-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |
Epilessia del lobo temporale sintomatica: evoluzione clinica, neuropsicologica e neuroradiologica | C. Garone; A. Posar; A. Parmeggiani | 2008-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |
Sindrome 22q13:descrizione di due casi clinici | C. Garone; A. Posar; M.C. Scaduto; A. Parmeggiani | 2008-01-01 | - | s.n | 4.02 Riassunto (Abstract) | - |
Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy. | Franzoni E.; Gentile V.; Pellicciari A.; Garone C.; Iero L.; Gualandi S.; Cordelli D.M.; Cecconi ...I.; Moscano F.C.; Marchiani V.; Errani A. | 2009-01-01 | JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
Lo stroke in età pediatrica | Franzoni E.; Salerno G.G.; Valenti V.; Garone C.; Cecconi I.; Cordelli D.M.; Marchiani V. | 2009-01-01 | MEDICO E BAMBINO | - | 1.01 Articolo in rivista | - |
SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors. | Franzoni E; Monti M; Pellicciari A; Muratore C; Verrotti A; Garone C; Cecconi I; Iero L; Gualandi... S; Savarino F; Gualandi P. | 2009-01-01 | NEUROPSYCHIATRIC DISEASE AND TREATMENT | - | 1.01 Articolo in rivista | - |
Historical perspective on mitochondrial medicine | DiMauro S.; Garone C. | 2010-01-01 | DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS | - | 1.01 Articolo in rivista | - |
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). | Cordelli D.M.; Garone C.; Marchiani V.; Lodi R.; Tonon C.; Ferrari S.; Seri M.; Franzoni E. | 2010-01-01 | NEUROMUSCULAR DISORDERS | - | 1.01 Articolo in rivista | - |
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis | Ramesh V; Bernardi B; Stafa A; Garone C; Franzoni E; Abinun M; Mitchell P; Mitra D; Friswell M; N...elson J; Shalev SA; Rice GI; Gornall H; Szynkiewicz M; Aymard F; Ganesan V; Prendiville J; Livingston JH; Crow YJ | 2010-01-01 | DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | - | 1.01 Articolo in rivista | - |
Metabolic myopathies | DiMauro S.; Garone C.; Naini A. | 2010-01-01 | CURRENT RHEUMATOLOGY REPORTS | - | 1.01 Articolo in rivista | - |
A new case of idiopathic hemiplegia hemiconvulsion syndrome | Franzoni E; Garone C; Marchiani V; Brunetto D; Tonon C; Lodi R; Bernardi B | 2010-01-01 | NEUROLOGICAL SCIENCES | - | 1.01 Articolo in rivista | - |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy | Garone C.; Tadesse S.; Hirano M. | 2011-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. | Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; V...errotti A; Seri M; Franzoni E. | 2011-01-01 | DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | - | 1.01 Articolo in rivista | - |
Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain | DiMauro S.; Garone C. | 2011-01-01 | SEMINARS IN FETAL & NEONATAL MEDICINE | - | 1.01 Articolo in rivista | - |
Fever as a seizure precipitant factor in Panayiotopoulos syndrome: A clinical and genetic study |
Cordelli DM; Aldrovandi A; Gentile V; Garone C; Conti S; Aceti A; Gennaro E; Zara F; Franzoni E |
2012-01-01 | SEIZURE | - | 1.01 Articolo in rivista | - |
CoQ 10 deficiencies and MNGIE: Two treatable mitochondrial disorders | Hirano M.; Garone C.; Quinzii C.M. | 2012-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS | - | 1.01 Articolo in rivista | - |
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus |
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 |
2012-01-01 | NATURE GENETICS | - | 1.01 Articolo in rivista | - |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing | 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. | 2012-01-01 | SCIENCE TRANSLATIONAL MEDICINE | - | 1.01 Articolo in rivista | - |
MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions | Garone C.; Rubio J.C.; Calvo S.E.; Naini A.; Tanji K.; DiMauro S.; Mootha V.K.; Hirano M. | 2012-01-01 | ARCHIVES OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions | 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. | 2012-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
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