Search Results - Barbara Garavaglia

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  1. 1
    DMT1 Expression and Iron Levels at the Crossroads Between Aging and Neurodegeneration

    DMT1 Expression and Iron Levels at the Crossroads Between Aging and Neurodegeneration by Rosaria Ingrassia, Barbara Garavaglia, Maurizio Memo

    Published 2019
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  2. 2
    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families by Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, José Berciano, Daniele Ghezzi, Barbara Garavaglia

    Published 2007
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  3. 3
    Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

    Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations by Federica Invernizzi, Anna Ardissone, Eleonora Lamantea, Barbara Garavaglia, Massimo Zeviani, Laura Farina, Daniele Ghezzi, Isabella Moroni

    Published 2014
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  4. 4
    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration

    Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration by Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Vincenzo Leuzzi

    Published 2018
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  5. 5
    Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

    Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients by Paolo Santambrogio, Sabrina Dusi, Michela Guaraldo, Luisa Ida Rotundo, Vania Broccoli, Barbara Garavaglia, Valeria Tiranti, Sonia Levi

    Published 2015
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  6. 6
    Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties

    Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties by Alessandro Campanella, Daniela Privitera, Michela Guaraldo, E Rovelli, Chiara Barzaghi, Barbara Garavaglia, Paolo Santambrogio, Anna Cozzi, Sonia Levi

    Published 2012
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  7. 7
    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts by Maria Clara Zanellati, Valentina Monti, Chiara Barzaghi, Chiara Reale, Nardo Nardocci, Alberto Albanese, Enza Maria Valente, Daniele Ghezzi, Barbara Garavaglia

    Published 2015
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  8. 8
    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of <i>AIFM1</i> disorders

    A slowly progressive mitochondrial encephalomyopathy widens the spectrum of <i>AIFM1</i> disorders by Anna Ardissone, Giuseppe Piscosquito, Andrea Legati, Tiziana Langella, Eleonora Lamantea, Barbara Garavaglia, Ettore Salsano, Laura Farina, Isabella Moroni, Davide Pareyson, Daniele Ghezzi

    Published 2015
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  9. 9
    Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome

    Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome by Anna Cozzi, Paolo Santambrogio, Daniela Privitera, Vania Broccoli, Luisa Ida Rotundo, Barbara Garavaglia, Rudolf Benz, Sandro Altamura, Jeroen S. Goede, Martina U. Muckenthaler, Sonia Levi

    Published 2013
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  10. 10
    Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

    Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases by Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, C. Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Bricarelli

    Published 2013
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  11. 11
    New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

    New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies by Andrea Legati, Aurelio Reyes, Alessia Nasca, Federica Invernizzi, Eleonora Lamantea, Valeria Tiranti, Barbara Garavaglia, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Alan J. Robinson, Daniele Ghezzi, Massimo Zeviani

    Published 2016
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  12. 12
    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations

    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations by Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, S. Binelli, V. Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti

    Published 2015
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  13. 13
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy by Filippo M. Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

    Published 2013
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  14. 14
    Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration

    Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration by Daniel Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena Giannelli, Paola Venco, Pietro Giuseppe Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi

    Published 2016
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  15. 15
    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations by Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciusani, Enrico Bertini, Nardo Nardocci, Vamsi K. Mootha, Valeria Tiranti

    Published 2011
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  16. 16
    Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes

    Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes by Ahmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, Nico Golfrè Andreasi, Sara Rinaldo, Zvi Israel, David Arkadir, Roberta Telese, Vincenzo Levi, Giovanna Zorzi, Jacopo Carpaneto, Miryam Carecchio, Holger Prokisch, Michael Zech, Barbara Garavaglia, Hagai Bergman, Roberto Eleopra, Alberto Mazzoni, Luigi Romito

    Published 2025
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  17. 17
    Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

    Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein by Valeria Tiranti, Pio D’Adamo, Egill Briem, Giovanfrancesco Ferrari, Rossana Mineri, Eleonora Lamantea, Hanna Mandel, Paolo Balestri, María Teresa García‐Silva, Brigitte Vollmer, Piero Rinaldo, Si Houn Hahn, James Leonard, Shamima Rahman, Carlo Dionisi‐Vici, Barbara Garavaglia, Paolo Gasparini, Massimo Zeviani

    Published 2004
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  18. 18
    ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

    ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients by Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P. Bhatia, Valentina Monti, Lea R’Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, María Stamelou, Nardo Nardocci

    Published 2017
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  19. 19
    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study

    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study by Miryam Carecchio, Federica Invernizzi, Paulina González-Latapí, Celeste Panteghini, Giovanna Zorzi, Luigi Romito, Vincenzo Leuzzi, Serena Galosi, Chiara Reale, Federica Zibordi, Agnel Praveen Joseph, Maya Topf, Carla Piano, Anna Rita Bentivoglio, F. Girotti, Paolo Morana, Benedetto Morana, Manju A. Kurian, Barbara Garavaglia, Niccolò E. Mencacci, Steven Lubbe, Nardo Nardocci

    Published 2019
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  20. 20
    Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

    Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians by Daniele Ghezzi, Cécilia Marelli, Alessandro Achilli, Stefano Goldwurm, Gianni Pezzoli, Paolo Barone, Maria Teresa Pellecchia, Paolo Stanzione, Livia Brusa, Anna Rita Bentivoglio, Ubaldo Bonuccelli, Lucia Petrozzi, Giovanni Abbruzzese, Roberta Marchese, Pietro Cortelli, Daniela Grimaldi, Paolo Martinelli, Carlo Ferrarese, Barbara Garavaglia, Simonetta Sangiorgi, Valério Carelli, Antonio Torroni, Alberto Albanese, Massimo Zeviani

    Published 2005
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