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
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
2011-01-01 Musumeci O; Bassi MT; Mazzeo A; Grandis M; Crimella C; Martinuzzi A; Toscano A
A Novel Nonsense Mutation in the APTX Gene Associated with Delayed DNA Single-strand Break Removal Fails to Enhance Sensitivity to Different Genotoxic Agents
2011-01-01 Crimella C; Cantoni O; Guidarelli A; Vantaggiato C; Martinuzzi A; Fiorani M; Azzolini C; Orso G; Bresolin N; Bassi MT
A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients
2024-01-01 Paparella, Gabriella; Stragà, Cristina; Pesenti, Nicola; Dal Molin, Valentina; Martorel, Gian Antonio; Merotto, Vasco; Genova, Cristina; Piazza, Arianna; Piccoli, Giuseppe; Panzeri, Elena; Rufini, Alessandra; Testi, Roberto; Martinuzzi, Andrea
A Population Survey in Italy Based on the ICF Classification: Recognizing Persons with Severe Disability
2012-01-01 Leonardi M; Martinuzzi A; Meucci P; Sala M; Russo E; Buffoni M; Raggi A
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
1999-01-01 Bruno C; Martinuzzi A; Tang YY; Andreu AL; Pallotti F; Bonilla E; Shanske S; Fu J; Sue CM; Angelini C; DiMauro S; Manfredi G
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
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene
2025-01-01 Tropeano, Concetta Valentina; La Morgia, Chiara; Achilli, Alessandro; Iommarini, Luisa; Tioli, Gaia; Caporali, Leonardo; Olivieri, Anna; Valentino, Maria Lucia; Liguori, Rocco; Barboni, Piero; Martinuzzi, Andrea; Tonon, Caterina; Lodi, Raffaele; Torroni, Antonio; Carelli, Valerio; Ghelli, Anna Maria
Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent
2003-01-01 Zanna C; Ghelli A; Porcelli AM; Carelli V; Martinuzzi A; Rugolo M
Aquaporin 1 expression in cystic hemangioblastomas
2006-01-01 Longatti P; Basaldella L; Orvieto E; Dei Tos AP; Martinuzzi A
Asynchronous regulation of muscle specific isozymes of creatine kinase, glycogen phosphorylase, lactic dehydrogenase and phosphoglycerate mutase in innervated and non-innervated cultured human muscle
1988-01-01 Martinuzzi A; Askanas V; Kobayashi T; Engel WK
Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models
2023-01-01 Roitero, Kevin; Martinuzzi, Andrea; Armellin, Maria Teresa; Paparella, Gabriella; Maniero, Alberto; Della Mea, Vincenzo
Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration
2004-01-01 Carelli V; Rugolo M; Sgarbi G; Ghelli A; Zanna C; Baracca A; Lenaz G; Napoli E; Martinuzzi A; Solaini G
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
Carnitine deficiency as a cause of subacute myopathy in the elderly
1996-01-01 Martinuzzi A; Vergani L; Freda MP; Fanin M; Schievano G; Angelini C
Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia
2023-01-01 Panzeri, Elena; Citterio, Andrea; Martinuzzi, Andrea; Ancona, Vera; Martini, Eleonora; Bassi, Maria Teresa
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
Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response
2023-01-01 Bresciani, Lorenzo; Salvalaggio, Alessandro; Vegezzi, Elisa; Visentin, Andrea; Fortuna, Andrea; Anglani, Mariagiulia; Cacciavillani, Mario; Masciocchi, Stefano; Scaranzin, Silvia; Carecchio, Miryam; Martinuzzi, Andrea; Gastaldi, Matteo; Briani, Chiara
Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-induced apoptosis
2002-01-01 Danielson SR; Wong A; Carelli V; Martinuzzi A; Schapira AHV; Cortopassi GA
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 2 NOVEL MISSENSE MUTATIONS (E654K, L396P) IN CAUCASIAN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE) | 1995 | TSUJINO S; SHANSKE S; MARTINUZZI A; HEIMANPATTERSON T; DIMAURO S | |
| A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY | 2009 | Toscano A; Musumeci O; Mazzeo A; Rossetto MG; Martinuzzi A; Bassi MT | |
| A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy | 2011 | Musumeci O; Bassi MT; Mazzeo A; Grandis M; Crimella C; Martinuzzi A; Toscano A | |
| A Novel Nonsense Mutation in the APTX Gene Associated with Delayed DNA Single-strand Break Removal Fails to Enhance Sensitivity to Different Genotoxic Agents | 2011 | Crimella C; Cantoni O; Guidarelli A; Vantaggiato C; Martinuzzi A; Fiorani M; Azzolini C; Orso G; Bresolin N; Bassi MT | |
| A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients | 2024 | Paparella, Gabriella; Stragà, Cristina; Pesenti, Nicola; Dal Molin, Valentina; Martorel, Gian Antonio; Merotto, Vasco; Genova, Cristina; Piazza, Arianna; Piccoli, Giuseppe; Panzeri, Elena; Rufini, Alessandra; Testi, Roberto; Martinuzzi, Andrea | |
| A Population Survey in Italy Based on the ICF Classification: Recognizing Persons with Severe Disability | 2012 | Leonardi M; Martinuzzi A; Meucci P; Sala M; Russo E; Buffoni M; Raggi A | |
| A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV | 1999 | Bruno C; Martinuzzi A; Tang YY; Andreu AL; Pallotti F; Bonilla E; Shanske S; Fu J; Sue CM; Angelini C; DiMauro S; Manfredi G | |
| Accumulation of CK-MM is impaired in innervated and contracting cultured muscle fibers of Duchenne muscular dystrophy patients | 1987 | Askanas V; Martinuzzi A; Engel WK; Kobayashi T; Stern LZ; Hsu JD | |
| Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene | 2025 | Tropeano, Concetta Valentina; La Morgia, Chiara; Achilli, Alessandro; Iommarini, Luisa; Tioli, Gaia; Caporali, Leonardo; Olivieri, Anna; Valentino, Maria Lucia; Liguori, Rocco; Barboni, Piero; Martinuzzi, Andrea; Tonon, Caterina; Lodi, Raffaele; Torroni, Antonio; Carelli, Valerio; Ghelli, Anna Maria | |
| Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent | 2003 | Zanna C; Ghelli A; Porcelli AM; Carelli V; Martinuzzi A; Rugolo M | |
| Aquaporin 1 expression in cystic hemangioblastomas | 2006 | Longatti P; Basaldella L; Orvieto E; Dei Tos AP; Martinuzzi A | |
| Asynchronous regulation of muscle specific isozymes of creatine kinase, glycogen phosphorylase, lactic dehydrogenase and phosphoglycerate mutase in innervated and non-innervated cultured human muscle | 1988 | Martinuzzi A; Askanas V; Kobayashi T; Engel WK | |
| Automated ICF Coding of Rehabilitation Notes for Low-Resource Languages via Continual Training of Language Models | 2023 | Roitero, Kevin; Martinuzzi, Andrea; Armellin, Maria Teresa; Paparella, Gabriella; Maniero, Alberto; Della Mea, Vincenzo | |
| Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration | 2004 | Carelli V; Rugolo M; Sgarbi G; Ghelli A; Zanna C; Baracca A; Lenaz G; Napoli E; Martinuzzi A; Solaini G | |
| BSCL2 missense mutation in an Italian case with distal motor neuropathy and Silver syndrome (SPG17) | 2005 | Siciliano G; Cafforio G; Mancuso M; Calabrese R; Martinuzzi A; Bassi MT; Crippa F; Murri L | |
| Carnitine deficiency as a cause of subacute myopathy in the elderly | 1996 | Martinuzzi A; Vergani L; Freda MP; Fanin M; Schievano G; Angelini C | |
| Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia | 2023 | Panzeri, Elena; Citterio, Andrea; Martinuzzi, Andrea; Ancona, Vera; Martini, Eleonora; Bassi, Maria Teresa | |
| Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G | 2005 | Zanna C; Ghelli A; Porcelli AM; Martinuzzi A; Carelli V; Rugolo M | |
| Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response | 2023 | Bresciani, Lorenzo; Salvalaggio, Alessandro; Vegezzi, Elisa; Visentin, Andrea; Fortuna, Andrea; Anglani, Mariagiulia; Cacciavillani, Mario; Masciocchi, Stefano; Scaranzin, Silvia; Carecchio, Miryam; Martinuzzi, Andrea; Gastaldi, Matteo; Briani, Chiara | |
| Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-induced apoptosis | 2002 | Danielson SR; Wong A; Carelli V; Martinuzzi A; Schapira AHV; Cortopassi GA |