MARTINUZZI, Andrea
MARTINUZZI, Andrea
SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE
2 NOVEL MISSENSE MUTATIONS (E654K, L396P) IN CAUCASIAN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
1995-01-01 TSUJINO S; SHANSKE S; MARTINUZZI A; HEIMANPATTERSON T; DIMAURO S
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY
2009-01-01 Toscano A; Musumeci O; Mazzeo A; Rossetto MG; Martinuzzi A; Bassi MT
Accumulation of CK-MM is impaired in innervated and contracting cultured muscle fibers of Duchenne muscular dystrophy patients
1987-01-01 Askanas V; Martinuzzi A; Engel WK; Kobayashi T; Stern LZ; Hsu JD
BSCL2 missense mutation in an Italian case with distal motor neuropathy and Silver syndrome (SPG17)
2005-01-01 Siciliano G; Cafforio G; Mancuso M; Calabrese R; Martinuzzi A; Bassi MT; Crippa F; Murri L
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G
2005-01-01 Zanna C; Ghelli A; Porcelli AM; Martinuzzi A; Carelli V; Rugolo M
Coiling and neuroendoscopy: a new perspective in the treatment of intraventricular haemorrhages due to bleeding aneurysms
2006-01-01 Longatti P; Fiorindi A; Di Paola F; Curtolo S; Basaldella L; Martinuzzi A
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions
2012-01-01 Caporali L; Ghelli AM; Iommarini L; Maresca A; Valentino ML; La Morgia C; Liguori R; Zanna C; Barboni P; De Nardo V; Martinuzzi A; Rizzo G; Tonon C; Lodi R; Calvaruso MA; Cappelletti M; Porcelli AM; Achilli A; Pala M; Torroni A; Carelli V.
Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework
2009-01-01 Bonanni P; Gobbo A; Nappi S; Moret O; Nogarol A; Santin M; Randazzo G; Martinuzzi A
Hippocampal remodelling after MDMA neurotoxicity: A single case study
2009-01-01 Nifosi F; Martinuzzi A; Toffanin T; Costanzo R; Vestri A; Battaglia M; Bertagnoni GE; Lupi A; Amista P; Carollo C; Perini G
International Classification of Functioning, Disability and Health in a cohort of children with cognitive, motor, and complex disabilities
2004-01-01 Battaglia M; Russo E; Bolla A; Chiusso A; Bertelli S; Pellegri A; Borri G; Martinuzzi A
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
2003-01-01 Ghelli A; Zanna C; Porcelli AM; Schapira AHV; Martinuzzi A; Carelli V; Rugolo M
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
2006-01-01 Bruno C;Cassandrini D;Martinuzzi A;Toscano A;Moggio M;Morandi L;Servidei S;Mongini T;Angelini C;Musumeci O;Comi GP;Lamperti C;Filosto M;Zara F;Minetti C
Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP)
2006-01-01 Martinuzzi A; MariaGiovanna R; Francesco C; Chris P; Olimpia M; Giovanni V; Antonio T; Pietro CG; Grazia D; Luisa MM; Pietro TC; Gabriele S; Giovanni M; Paolo P; Andrea D; Massimo P; Nereo B; Teresa BM
MTDNA MUTATIONS ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY - STUDIES ON CYTOPLASMIC HYBRID (CYBRID) CELLS
1995-01-01 VERGANI L; MARTINUZZI A; CARELLI V; CORTELLI P; MONTAGNA P; SCHIEVANO G; CARROZZO R; ANGELINI C; LUGARESI E
NEUROENDOSCOPIC ASPIRATION OF HEMATOCEPHALUS TOTALIS: TECHNICAL NOTE
2005-01-01 Longatti P; Fiorindi A; Martinuzzi A
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features
2003-01-01 Fertig E; Lincoln A; Martinuzzi A; Mattson RH; Hisama FM
Phenotype modulators in myophosphorylase deficiency.
2003-01-01 Martinuzzi A;Sartori E;Fanin M;Nascimbeni A;Valente L;Angelini C;Siciliano G;Mongini T;Tonin P;Tomelleri G;Toscano A;Merlini L;Bindoff LA;Bertelli S
Preliminary results of ICF dissemination in primary health care in Mozambique: Sharing the Italian experience
2009-01-01 Borgnolo G; Soares IC; Soares BD; Gongolo F; Vaz P; Meucci P; Quintas R; Lembo R; Martinuzzi A
Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids
2008-01-01 Ghelli A; Porcelli AM; Zanna C; Martinuzzi A; Carelli V; Rugolo M
ROLE OF THE PERMEABILITY TRANSITION PORE IN THE PATHOGENESIS OF COMPLEX I DYSFUNCTION DUE TO mtDNA MUTATIONS
2009-01-01 Bernardi P; Angelin A; Porcelli AM; Ghelli A; Mariani E; Martinuzzi A; Carelli V; Petronilli V; Rugolo M