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
20 Years of ICF-International Classification of Functioning, Disability and Health: Uses and Applications around the World
2022-01-01 Leonardi, Matilde; Lee, Haejung; Kostanjsek, Nenad; Fornari, Arianna; Raggi, Alberto; Martinuzzi, Andrea; Yáñez, Manuel; Almborg, Ann-Helene; Fresk, Magdalena; Besstrashnova, Yanina; Shoshmin, Alexander; Castro, Shamyr Sulyvan; Cordeiro, Eduardo Santana; Cuenot, Marie; Haas, Christine; Maart, Soraya; Maribo, Thomas; Miller, Janice; Mukaino, Masahiko; Snyman, Stefanus; Trinks, Ulrike; Anttila, Heidi; Paltamaa, Jaana; Saleeby, Patricia; Frattura, Lucilla; Madden, Ros; Sykes, Catherine; Gool, Coen H van; Hrkal, Jakub; Zvolský, Miroslav; Sládková, Petra; Vikdal, Marie; Harðardóttir, Guðrún Auður; Foubert, Josephine; Jakob, Robert; Coenen, Michaela; Kraus de Camargo, Olaf
211th ENMC International Workshop:
2017-01-01 Quinlivan, Ros; Andreu, Antoni L.; Marti, Ramon; Andreu, A.; Godfrey, R.; Haller, R.; Laforêt, P.; Lucía, A.; Martí, R.; Martín, M.; Martinuzzi, A.; Oldfors, A.; Ortega, X.; Pagliarani, S.; Piirila, P.; Piercy, R.; Pinós, T.; Quinlivan, R.; Scalco, R.; Schoser, B.; Toscano, A.; Vissing, J.; Wakelin, A.
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
2008-01-01 Arnoldi A; Tonelli A; Crippa F; Villani G; Pacelli C; Sironi M; Pozzoli U; D'Angelo MG; Meola G; Martinuzzi A; Crimella C; Redaelli F; Panzeri C; Renieri A; Comi GP; Turconi AC; Bresolin N; Bassi MT
A Long Term Effects of a New Onset Psychosis after DBS Treated with Quetiapine in a Patient with Parkinson's Disease
2015-01-01 Piccoli, Sara; Perini, Giulia; Pizzighello, Silvia; Vestri, Alec; Ferri, Giovanni; Toffanin, Tommaso; Follador, Halima; Martinuzzi, Andrea
A new scale for the assessment of performance and capacity of hand function in children with hemiplegic cerebral palsy: reliability and validity studies
2014-01-01 Rosa-Rizzotto, M; Visonà Dalla Pozza, L; Corlatti, A; Luparia, A; Marchi, A; Molteni, F; Facchin, P; Pagliano, E; Fedrizzi, E, Martinuzzi, A;
A Novel in-Frame 18-bp Microdeletion inMT-CYBCauses a Multisystem Disorder with Prominent Exercise Intolerance
2014-01-01 Carossa, Valeria; Ghelli, Anna; Tropeano, Concetta Valentina; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Caporali, Leonardo; La Morgia, Chiara; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Martinuzzi, Andrea; De Nardo, Vera; Rugolo, Michela; Ferretti, Luca; Gandini, Francesca; Pala, Maria; Achilli, Alessandro; Olivieri, Anna; Torroni, Antonio; Carelli, Valerio
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 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 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, Matilde; Martinuzzi, Andrea; Meucci, Paolo; Sala, Marina; Russo, Emanuela; Buffoni, Mara; Raggi, Alberto
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
A survey on feasibility of ICF-CY use to describe persisting difficulties in executing tasks and activities of children and adolescent with disability in Italy
2014-01-01 Meucci, Paolo; Leonardi, Matilde; Sala, Marina; Martinuzzi, Andrea; Russo, Emanuela; Buffoni, Mara; Fusaro, Guido; Raggi, Alberto
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
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
2020-01-01 Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, Andrea; Duarte, Sofia T; Bennett, James T; Bourinaris, Thomas; Houlden, Henry; Roubertie, Agathe; Santorelli, Filippo M; Robinson, Margaret; Azzouz, Mimoun; Lipton, Jonathan O; Borner, Georg H H; Sahin, Mustafa; Ebrahimi-Fakhari, Darius
Administration of naringenin ameliorates DSpastin loss of function phenotypes in Drosophila melanogaster
2019-01-01 Napoli B.; Salvador A.; Forgiarini A.; Vantaggiato C.; Panzeri E.; Martinuzzi A.; Orso G.
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
Analysis of Italian regulations on pathways of care for patients in a vegetative or minimally conscious state
2017-01-01 Sattin, Davide: De Torres, Luca; Martinuzzi, Andrea; Leonardi, Matilde
Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy
2005-01-01 Floreani M; Napoli E; Martinuzzi A; Pantano G; De Riva V; Trevisan R; Bisetto E; Valente L; Carelli V; Dabbeni-Sala F
| 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 | |
| 20 Years of ICF-International Classification of Functioning, Disability and Health: Uses and Applications around the World | 2022 | Leonardi, Matilde; Lee, Haejung; Kostanjsek, Nenad; Fornari, Arianna; Raggi, Alberto; Martinuzzi, Andrea; Yáñez, Manuel; Almborg, Ann-Helene; Fresk, Magdalena; Besstrashnova, Yanina; Shoshmin, Alexander; Castro, Shamyr Sulyvan; Cordeiro, Eduardo Santana; Cuenot, Marie; Haas, Christine; Maart, Soraya; Maribo, Thomas; Miller, Janice; Mukaino, Masahiko; Snyman, Stefanus; Trinks, Ulrike; Anttila, Heidi; Paltamaa, Jaana; Saleeby, Patricia; Frattura, Lucilla; Madden, Ros; Sykes, Catherine; Gool, Coen H van; Hrkal, Jakub; Zvolský, Miroslav; Sládková, Petra; Vikdal, Marie; Harðardóttir, Guðrún Auður; Foubert, Josephine; Jakob, Robert; Coenen, Michaela; Kraus de Camargo, Olaf | |
| 211th ENMC International Workshop: | 2017 | Quinlivan, Ros; Andreu, Antoni L.; Marti, Ramon; Andreu, A.; Godfrey, R.; Haller, R.; Laforêt, P.; Lucía, A.; Martí, R.; Martín, M.; Martinuzzi, A.; Oldfors, A.; Ortega, X.; Pagliarani, S.; Piirila, P.; Piercy, R.; Pinós, T.; Quinlivan, R.; Scalco, R.; Schoser, B.; Toscano, A.; Vissing, J.; Wakelin, A. | |
| A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia | 2008 | Arnoldi A; Tonelli A; Crippa F; Villani G; Pacelli C; Sironi M; Pozzoli U; D'Angelo MG; Meola G; Martinuzzi A; Crimella C; Redaelli F; Panzeri C; Renieri A; Comi GP; Turconi AC; Bresolin N; Bassi MT | |
| A Long Term Effects of a New Onset Psychosis after DBS Treated with Quetiapine in a Patient with Parkinson's Disease | 2015 | Piccoli, Sara; Perini, Giulia; Pizzighello, Silvia; Vestri, Alec; Ferri, Giovanni; Toffanin, Tommaso; Follador, Halima; Martinuzzi, Andrea | |
| A new scale for the assessment of performance and capacity of hand function in children with hemiplegic cerebral palsy: reliability and validity studies | 2014 | Rosa-Rizzotto, M; Visonà Dalla Pozza, L; Corlatti, A; Luparia, A; Marchi, A; Molteni, F; Facchin, P; Pagliano, E; Fedrizzi, E, Martinuzzi, A; | |
| A Novel in-Frame 18-bp Microdeletion inMT-CYBCauses a Multisystem Disorder with Prominent Exercise Intolerance | 2014 | Carossa, Valeria; Ghelli, Anna; Tropeano, Concetta Valentina; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Caporali, Leonardo; La Morgia, Chiara; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Martinuzzi, Andrea; De Nardo, Vera; Rugolo, Michela; Ferretti, Luca; Gandini, Francesca; Pala, Maria; Achilli, Alessandro; Olivieri, Anna; Torroni, Antonio; Carelli, Valerio | |
| 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 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 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, Matilde; Martinuzzi, Andrea; Meucci, Paolo; Sala, Marina; Russo, Emanuela; Buffoni, Mara; Raggi, Alberto | |
| 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 | |
| A survey on feasibility of ICF-CY use to describe persisting difficulties in executing tasks and activities of children and adolescent with disability in Italy | 2014 | Meucci, Paolo; Leonardi, Matilde; Sala, Marina; Martinuzzi, Andrea; Russo, Emanuela; Buffoni, Mara; Fusaro, Guido; Raggi, Alberto | |
| 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 | |
| Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking | 2020 | Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, Andrea; Duarte, Sofia T; Bennett, James T; Bourinaris, Thomas; Houlden, Henry; Roubertie, Agathe; Santorelli, Filippo M; Robinson, Margaret; Azzouz, Mimoun; Lipton, Jonathan O; Borner, Georg H H; Sahin, Mustafa; Ebrahimi-Fakhari, Darius | |
| Administration of naringenin ameliorates DSpastin loss of function phenotypes in Drosophila melanogaster | 2019 | Napoli B.; Salvador A.; Forgiarini A.; Vantaggiato C.; Panzeri E.; Martinuzzi A.; Orso G. | |
| 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 | |
| Analysis of Italian regulations on pathways of care for patients in a vegetative or minimally conscious state | 2017 | Sattin, Davide: De Torres, Luca; Martinuzzi, Andrea; Leonardi, Matilde | |
| Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy | 2005 | Floreani M; Napoli E; Martinuzzi A; Pantano G; De Riva V; Trevisan R; Bisetto E; Valente L; Carelli V; Dabbeni-Sala F |