Hasil Pencarian - Lorena Travaglini

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  1. 1
    CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

    CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report oleh Marina Romozzi, Guido Primiano, Eleonora Rollo, Lorena Travaglini, Paolo Calabresi, Serenella Servidei, Catello Vollono

    Diterbitkan 2021-07-01
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  2. 2
    Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

    Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias oleh Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita

    Diterbitkan 2020-05-01
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  3. 3
    Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons

    Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons oleh Enrico Bertini, Barbara Carletti, Sara Petrillo, Emanuela Piermarini, Chiara Priori, Lorena Travaglini, Stefania Petrini, Valentina D'Oria, Fiorella Piemonte

    Diterbitkan 2013-04-01
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  4. 4
    Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

    Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis oleh Barbara Carletti, Emanuela Piermarini, Giulia Tozzi, Lorena Travaglini, Alessandra Torraco, Anna Pastore, Marco Sparaco, Sara Petrillo, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte

    Diterbitkan 2014-04-01
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  5. 5
    Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

    Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study oleh Federica Graziola, Federica Graziola, Giacomo Garone, Giacomo Garone, Fabrizia Stregapede, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano

    Diterbitkan 2019-10-01
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  6. 6
    Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

    Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience oleh Vittorio Riso, Salvatore Rossi, Tommaso F. Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri

    Diterbitkan 2021-02-01
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  7. 7
    Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome

    Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome oleh Sergio Ghirardo, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi degli Atti, Claudio Cherchi, Renato Cutrera

    Diterbitkan 2022-09-01
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  8. 8
    Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

    Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease oleh Carmela Romano, Emanuele Morena, Simona Petrucci, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Maria Piane, Marco Salvetti, Marco Salvetti, Silvia Romano, Giovanni Ristori, Giovanni Ristori

    Diterbitkan 2024-03-01
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  9. 9
    Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes

    Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes oleh Valentina Magliocca, Valentina Magliocca, Angela Lanciotti, Elena Ambrosini, Lorena Travaglini, Veronica D’Ezio, Valentina D’Oria, Stefania Petrini, Michela Catteruccia, Keith Massey, Marco Tartaglia, Enrico Bertini, Tiziana Persichini, Claudia Compagnucci

    Diterbitkan 2024-07-01
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  10. 10
    Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders

    Superior Cerebellar Atrophy: An Imaging Clue to Diagnose <i>ITPR1</i>-Related Disorders oleh Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D’Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni

    Diterbitkan 2022-06-01
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  11. 11
    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i>

    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> oleh Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

    Diterbitkan 2022-07-01
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  12. 12
    SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

    SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples oleh Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano

    Diterbitkan 2021-09-01
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  13. 13
    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study oleh Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Eugenio Mercuri, Alessandra Ferlini, Alessandra Ferlini

    Diterbitkan 2020-03-01
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