檢索結果 - Andrea Martinuzzi

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  1. 1
    Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

    Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V) 由 Rosaline C. M. Quinlivan, Andrea Martinuzzi, Benedikt Schoser

    出版 2014
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  2. 2
    Neuroendoscopic Management of Intraventricular Hemorrhage

    Neuroendoscopic Management of Intraventricular Hemorrhage 由 Pierluigi Longatti, Andrea Martinuzzi, Alessandro Fiorindi, L. Maistrello, A Carteri

    出版 2004
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  3. 3
    Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

    Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. 由 Makoto Yoneda, Anne Chomyn, Andrea Martinuzzi, Orest Hurko, Giuseppe Attardi

    出版 1992
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  4. 4
    Parents of Adolescents with Anorexia Nervosa and Parents of Adult Women with Anorexia Nervosa

    Parents of Adolescents with Anorexia Nervosa and Parents of Adult Women with Anorexia Nervosa 由 Federico Amianto, Giulia Dell’Oca, Daniele Marcotulli, Chiara Davico, Andrea Martinuzzi

    出版 2025
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  5. 5
    Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium

    Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium 由 Anna Ghelli, Claudia Zanna, Anna Maria Porcelli, Anthony H.V. Schapira, Andrea Martinuzzi, Valério Carelli, Michela Rugolo

    出版 2003
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  6. 6
    Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines

    Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines 由 Simone Beretta, Laura Mattavelli, Gessica Sala, Lucio Tremolizzo, Anthony H.V. Schapira, Andrea Martinuzzi, Valério Carelli, Carlo Ferrarese

    出版 2004
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  7. 7
    Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels

    Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels 由 Anna Maria Porcelli, Alessia Angelin, Anna Ghelli, Elisa Mariani, Andrea Martinuzzi, Valério Carelli, Valeria Petronilli, Paolo Bernardi, Michela Rugolo

    出版 2008
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  8. 8
    MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

    MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream... 由 Anne Chomyn, Andrea Martinuzzi, Makoto Yoneda, Andrea Daga, Orest Hurko, DonaldR. Johns, Susan T. Lai, Ikuya Nonaka, C. Angelini, Giuseppe Attardi

    出版 1992
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  9. 9
    Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

    Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage 由 Céline Perier, Kim Tieu, Christelle Guégan, Casper Caspersen, Vernice Jackson‐Lewis, Valério Carelli, Andrea Martinuzzi, Michio Hirano, Serge Przedborski, Miquel Vila

    出版 2005
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  10. 10
    The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

    The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function 由 Chris Panzeri, Clara De Palma, Andrea Martinuzzi, Andrea Daga, G. De Polo, Nereo Bresolin, Christopher C.J. Miller, Elizabeth L. Tudor, Emilio Clementi, Maria Teresa Bassi

    出版 2006
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  11. 11
    Defective Oxidative Phosphorylation in Thyroid Oncocytic Carcinoma Is Associated with Pathogenic Mitochondrial DNA Mutations Affecting Complexes I and III

    Defective Oxidative Phosphorylation in Thyroid Oncocytic Carcinoma Is Associated with Pathogenic Mitochondrial DNA Mutations Affecting Complexes I and III 由 Elena Bonora, Anna Maria Porcelli, Giuseppe Gasparre, A. Biondi, Anna Ghelli, Valério Carelli, Alessandra Baracca, Giovanni Tallini, Andrea Martinuzzi, Giorgio Lenaz, Michela Rugolo, G. Cara Romeo

    出版 2006
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  12. 12
    A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

    A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV 由 Claudio Bruno, Andrea Martinuzzi, Yingying Tang, Antoni L. Andreu, Francesco Pallotti, Eduardo Bonilla, Sara Shanske, Jin Fu, Carolyn M. Sue, C. Angelini, Salvatore DiMauro, Giovanni Manfredi

    出版 1999
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  13. 13
    Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

    Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease 由 Rosa Pello, Miguel A. Martı́n, Valério Carelli, Leo Nijtmans, Alessandro Achilli, Maria Pala, Antonio Torroni, Aurora Gómez-Durán, Eduardo Ruiz‐Pesini, Andrea Martinuzzi, Jan Smeitink, Joaquı́n Arenas, Cristina Ugalde

    出版 2008
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  14. 14
    Switching from constant voltage to constant current in deep brain stimulation: a multicenter experience of mixed implants for movement disorders

    Switching from constant voltage to constant current in deep brain stimulation: a multicenter experience of mixed implants for movement disorders 由 Francesca Preda, Clarissa Cavandoli, Christian Lettieri, Manuela Pilleri, Angelo Antonini, Roberto Eleopra, Massimo Mondani, Andrea Martinuzzi, Silvio Sarubbo, G. Ghisellini, Andrea Trezza, Michele Alessandro Cavallo, Andrea Landi, Mariachiara Sensi

    出版 2015
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  15. 15
    Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

    Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy 由 Carla Giordano, Monica Montopoli, Elena Perli, Maurizia Orlandi, Marianna Fantin, Fred N. Ross‐Cisneros, Laura Caparrotta, Andrea Martinuzzi, Eugenio Ragazzi, Anna Ghelli, Alfredo A. Sadun, Giulia d’Amati, Valério Carelli

    出版 2010
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  16. 16
    Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

    Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis 由 Andrea Citterio, Alessia Arnoldi, Elena Panzeri, Maria Grazia D’Angelo, Massimiliano Filosto, Robertino Dilena, Filippo Arrigoni, Marianna Castelli, Cristina Maghini, Chiara Germiniasi, Francesca Menni, Andrea Martinuzzi, Nereo Bresolin, Maria Teresa Bassi

    出版 2013
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  17. 17
    Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

    Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15 由 Chiara Vantaggiato, Claudia Crimella, Giovanni Airoldi, Roman Polishchuk, Sara Bonato, Erika Brighina, Marina Scarlato, Olimpia Musumeci, António Toscano, Andrea Martinuzzi, Filippo M. Santorelli, Andrea Ballabio, Nereo Bresolin, Emilio Clementi, Maria Teresa Bassi

    出版 2013
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  18. 18
    The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

    The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes 由 Anna Ghelli, Concetta Valentina Tropeano, Maria Antonietta Calvaruso, Alessandra Marchesini, Luisa Iommarini, Anna Maria Porcelli, Claudia Zanna, Vera De Nardo, Andrea Martinuzzi, Flemming Wibrand, John Vissing, Ivana Kurelac, Giuseppe Gasparre, Nur Selamoglu, Fevzi Daldal, Michela Rugolo

    出版 2013
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  19. 19
    A clinical, genetic, and biochemical characterization of<i>SPG7</i>mutations in a large cohort of patients with hereditary spastic paraplegia

    A clinical, genetic, and biochemical characterization of<i>SPG7</i>mutations in a large cohort of patients with hereditary spastic paraplegia 由 Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli, Manuela Sironi, Uberto Pozzoli, Maria Grazia D’Angelo, G. Meola, Andrea Martinuzzi, Claudia Crimella, Francesca Redaelli, Chris Panzeri, Alessandra Renieri, Giacomo P. Comi, Anna Carla Turconi, Nereo Bresolin, Maria Teresa Bassi

    出版 2008
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  20. 20
    The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization

    The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization 由 Anna Maria Porcelli, Anna Ghelli, Claudio Ceccarelli, Martin Lang, Giovanna Cenacchi, Mariantonietta Capristo, Lucia Fiammetta Pennisi, Isabella Morra, E. Ciccarelli, Antonio Melcarne, Anna Bartoletti‐Stella, Nunzio Salfi, Giovanni Tallini, Andrea Martinuzzi, Valério Carelli, Marcella Attimonelli, Michela Rugolo, G. Cara Romeo, Giuseppe Gasparre

    出版 2009
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