SALVIATI, LEONARDO

SALVIATI, LEONARDO  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Diencephalic Syndrome and Disseminated Juvenile Pilocytic Asrocytomas of the Hyptholamic- Optic Chiasm Region 1997 PERILONGO, GIORGIOSALVIATI, LEONARDOMURGIA, ALESSANDRALAVERDA, ANNA MARIA + CANCER - -
Acute quadriplegic myopathy in a 17 month old boy 2000 SALVIATI, LEONARDOLAVERDA, ANNA MARIAZANCAN, LUCIAFANIN, MARINAANGELINI, CORRADO + JOURNAL OF CHILD NEUROLOGY - -
Acute disseminated encephalomyelitis associated with hepatitis C virus infection 2001 SALVIATI, LEONARDO + ARCHIVES OF NEUROLOGY - -
Mitochondrial DNA depletion and dGK gene mutations 2002 SALVIATI, LEONARDO + ANNALS OF NEUROLOGY - -
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA 2002 SALVIATI, LEONARDO + ARCHIVES OF NEUROLOGY - -
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA 2002 SALVIATI, LEONARDO + NEUROMUSCULAR DISORDERS - -
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations 2002 SALVIATI, LEONARDO + BIOCHEMICAL JOURNAL - -
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease 2002 SALVIATI, LEONARDO + ARCHIVES OF NEUROLOGY - -
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA 2002 SALVIATI, LEONARDO + NEUROLOGY - -
Lo splicing alternativo della proteina che ancora la CaMKII al reticolo sarcoplasmatico e’ regolato dallo stadio di sviluppo e dall’innervazione motoria del muscolo 2003 SALVIATI, LEONARDODAMIANI, ERNESTOMARGRETH, ALFREDO - - -
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle 2003 DAMIANI, ERNESTOSACCHETTO, ROBERTASALVIATI, LEONARDO + BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS - -
Mutation screening in patients with isolated cytochrome c oxidase deficiency 2003 SALVIATI, LEONARDO + PEDIATRIC RESEARCH - -
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome 2004 SALVIATI, LEONARDO + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
Post-natal developmental expression of alphaKAP splice variants in rabbit fast-twitch and slow-twitch skeletal muscle 2004 SACCHETTO, ROBERTASALVIATI, LEONARDODAMIANI, ERNESTOMARGRETH, ALFREDO JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY - -
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation 2004 SALVIATI, LEONARDO + JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION - -
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 2005 TREVISSON, EVATENCONI, ROMANOBASSO, GIUSEPPESALVIATI, LEONARDO + BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS - -
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition 2005 SALVIATI, LEONARDOBASSO, GIUSEPPEANGELINI, CORRADO + NEUROLOGY - -
Characterization of the 5 ' region of human CoQ2, a gene causing primary CoQ10 deficiency 2006 TREVISSON, EVASALVIATI, LEONARDO + BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
CREB e ICER: Nuovi regolatori dell'espressione genica dipendente dall'AMP ciclico nella leucemia acuta pediatrica. 2006 PIGAZZI, MARTINAMANARA, ELENATREVISSON, EVASALVIATI, LEONARDOBASSO, GIUSEPPE + - - HAEMATOLOGICA
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 2006 SALVIATI, LEONARDOTREVISSON, EVA + AMERICAN JOURNAL OF HUMAN GENETICS - -