Хайлтын үр дүнгүүд - Barbara Garavaglia

Үр дүнг сайжруулах
  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 -н Rosaria Ingrassia, Barbara Garavaglia, Maurizio Memo

    Хэвлэсэн 2019
    Бүрэн текст авах Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, José Berciano, Daniele Ghezzi, Barbara Garavaglia

    Хэвлэсэн 2007
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  3. 3
    Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

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

    Хэвлэсэн 2014
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Vincenzo Leuzzi

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Paolo Santambrogio, Sabrina Dusi, Michela Guaraldo, Luisa Ida Rotundo, Vania Broccoli, Barbara Garavaglia, Valeria Tiranti, Sonia Levi

    Хэвлэсэн 2015
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Alessandro Campanella, Daniela Privitera, Michela Guaraldo, E Rovelli, Chiara Barzaghi, Barbara Garavaglia, Paolo Santambrogio, Anna Cozzi, Sonia Levi

    Хэвлэсэн 2012
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  7. 7
    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

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

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Anna Ardissone, Giuseppe Piscosquito, Andrea Legati, Tiziana Langella, Eleonora Lamantea, Barbara Garavaglia, Ettore Salsano, Laura Farina, Isabella Moroni, Davide Pareyson, Daniele Ghezzi

    Хэвлэсэн 2015
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2013
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, C. Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Bricarelli

    Хэвлэсэн 2013
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  11. 11
    New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

    New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies -н 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

    Хэвлэсэн 2016
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2015
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  13. 13
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy -н 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

    Хэвлэсэн 2013
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2016
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2011
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2025
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2004
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2017
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2019
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  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 -н 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

    Хэвлэсэн 2005
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:

Хайх хэрэгслүүд: