Works matching AU Giannini, Fabio


Results: 43
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    A new mutation in DNM2 gene in a large Italian family.

    Published in:
    Neurological Sciences, 2021, v. 42, n. 6, p. 2509, doi. 10.1007/s10072-020-04972-8
    By:
    • Lopergolo, Diego;
    • Bocci, Silvia;
    • Pinto, Anna Maria;
    • Valentino, Floriana;
    • Doddato, Gabriella;
    • Ginanneschi, Federica;
    • Volpi, Nila;
    • Renieri, Alessandra;
    • Giannini, Fabio
    Publication type:
    Article
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    Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

    Published in:
    2017
    By:
    • Da Pozzo, Paola;
    • Cardaioli, Elena;
    • Rubegni, Anna;
    • Gallus, Gian;
    • Malandrini, Alessandro;
    • Rufa, Alessandra;
    • Battisti, Carla;
    • Carluccio, Maria;
    • Rocchi, Raffaele;
    • Giannini, Fabio;
    • Bianchi, Amedeo;
    • Mancuso, Michelangelo;
    • Siciliano, Gabriele;
    • Dotti, Maria;
    • Federico, Antonio;
    • Gallus, Gian Nicola;
    • Carluccio, Maria Alessandra;
    • Dotti, Maria Teresa
    Publication type:
    journal article
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    The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

    Published in:
    Biomedicines, 2023, v. 11, n. 3, p. 704, doi. 10.3390/biomedicines11030704
    By:
    • Canosa, Antonio;
    • Calvo, Andrea;
    • Mora, Gabriele;
    • Moglia, Cristina;
    • Brunetti, Maura;
    • Barberis, Marco;
    • Borghero, Giuseppe;
    • Caponnetto, Claudia;
    • Trojsi, Francesca;
    • Spataro, Rossella;
    • Volanti, Paolo;
    • Simone, Isabella Laura;
    • Salvi, Fabrizio;
    • Logullo, Francesco Ottavio;
    • Riva, Nilo;
    • Tremolizzo, Lucio;
    • Giannini, Fabio;
    • Mandrioli, Jessica;
    • Tanel, Raffaella;
    • Murru, Maria Rita
    Publication type:
    Article
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    Early sedation and clinical outcomes of mechanically ventilated patients: a prospective multicenter cohort study.

    Published in:
    Critical Care, 2014, v. 18, n. 4, p. R156, doi. 10.1186/cc13995
    By:
    • Sobreira Tanaka, Lilian Maria;
    • Pontes Azevedo, Luciano Cesar;
    • Park, Marcelo;
    • Schettino, Guilherme;
    • Nassar Jr., Antonio Paulo;
    • Réa-Neto, Alvaro;
    • Tannous, Luana;
    • Ces de Souza-Dantas, Vicente;
    • Torelly, André;
    • Lisboa, Thiago;
    • Piras, Claudio;
    • Bruzzi Carvalho, Frederico;
    • de Oliveira Maia, Marcelo;
    • Poianas Giannini, Fabio;
    • Ribeiro Machado, Flavia;
    • Dal-Pizzol, Felipe;
    • Ribeiro de Carvalho, Alexandre Guilherme;
    • Batista dos Santos, Ronaldo;
    • Guimarães Morando Marzocchi Tierno, Paulo Fernando;
    • Soares, Marcio
    Publication type:
    Article
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    Early sedation and clinical outcomes of mechanically ventilated patients: a prospective multicenter cohort study.

    Published in:
    2014
    By:
    • Tanaka, Lilian Maria Sobreira;
    • Azevedo, Luciano Cesar Pontes;
    • Park, Marcelo;
    • Schettino, Guilherme;
    • Nassar, Antonio Paulo;
    • Réa-Neto, Alvaro;
    • Tannous, Luana;
    • de Souza-Dantas, Vicente Ces;
    • Torelly, André;
    • Lisboa, Thiago;
    • Piras, Claudio;
    • Carvalho, Frederico Bruzzi;
    • de Oliveira Maia, Marcelo;
    • Giannini, Fabio Poianas;
    • Machado, Flavia Ribeiro;
    • Dal-Pizzol, Felipe;
    • de Carvalho, Alexandre Guilherme Ribeiro;
    • Dos Santos, Ronaldo Batista;
    • Tierno, Paulo Fernando Guimaraes Morando Marzocchi;
    • Soares, Marcio
    Publication type:
    journal article
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    Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02776-5
    By:
    • Fortunato, Fernanda;
    • Bianchi, Francesca;
    • Ricci, Giulia;
    • Torri, Francesca;
    • Gualandi, Francesca;
    • Neri, Marcella;
    • Farnè, Marianna;
    • Giannini, Fabio;
    • Malandrini, Alessandro;
    • Volpi, Nila;
    • Lopergolo, Diego;
    • Silani, Vincenzo;
    • Ticozzi, Nicola;
    • Verde, Federico;
    • Pareyson, Davide;
    • Fenu, Silvia;
    • Bonanno, Silvia;
    • Nigro, Vincenzo;
    • Peduto, Cristina;
    • D'Ambrosio, Paola
    Publication type:
    Article
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    Limitations in daily activities and general perception of quality of life: Long term follow‐up in patients with anti‐myelin‐glycoprotein antibody polyneuropathy.

    Published in:
    Journal of the Peripheral Nervous System, 2019, v. 24, n. 3, p. 276, doi. 10.1111/jns.12342
    By:
    • Campagnolo, Marta;
    • Ruiz, Marta;
    • Falzone, Yuri M.;
    • Ermani, Mario;
    • Bianco, Mariangela;
    • Martinelli, Daniele;
    • Cerri, Federica;
    • Quattrini, Angelo;
    • Salvalaggio, Alessandro;
    • Castellani, Francesca;
    • Comi, Giancarlo;
    • Giannini, Fabio;
    • Nobile‐Orazio, Eduardo;
    • Fazio, Raffaella;
    • Riva, Nilo;
    • Briani, Chiara
    Publication type:
    Article
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    Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1 -Related Myopathies.

    Published in:
    Genes, 2023, v. 14, n. 2, p. 298, doi. 10.3390/genes14020298
    By:
    • Dosi, Claudia;
    • Rubegni, Anna;
    • Baldacci, Jacopo;
    • Galatolo, Daniele;
    • Doccini, Stefano;
    • Astrea, Guja;
    • Berardinelli, Angela;
    • Bruno, Claudio;
    • Bruno, Giorgia;
    • Comi, Giacomo Pietro;
    • Donati, Maria Alice;
    • Dotti, Maria Teresa;
    • Filosto, Massimiliano;
    • Fiorillo, Chiara;
    • Giannini, Fabio;
    • Gigli, Gian Luigi;
    • Grandis, Marina;
    • Lopergolo, Diego;
    • Magri, Francesca;
    • Maioli, Maria Antonietta
    Publication type:
    Article
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    A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
    By:
    • Marinella, Gemma;
    • Astrea, Guja;
    • Buchignani, Bianca;
    • Cassandrini, Denise;
    • Doccini, Stefano;
    • Filosto, Massimiliano;
    • Galatolo, Daniele;
    • Gallone, Salvatore;
    • Giannini, Fabio;
    • Lopergolo, Diego;
    • Maioli, Maria Antonietta;
    • Magri, Francesca;
    • Malandrini, Alessandro;
    • Mandich, Paola;
    • Mari, Francesco;
    • Massa, Roberto;
    • Mata, Sabrina;
    • Melani, Federico;
    • Moggio, Maurizio;
    • Mongini, Tiziana E.
    Publication type:
    Article
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    The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 11, p. 3258, doi. 10.1007/s00415-020-09993-z
    By:
    • Lunetta, Christian;
    • Moglia, Cristina;
    • Lizio, Andrea;
    • Caponnetto, Claudia;
    • Dubbioso, Raffaele;
    • Giannini, Fabio;
    • Matà, Sabrina;
    • Mazzini, Letizia;
    • Sabatelli, Mario;
    • Siciliano, Gabriele;
    • Simone, Isabella Laura;
    • Sorarù, Gianni;
    • Toriello, Antonella;
    • Trojsi, Francesca;
    • Vedovello, Marcella;
    • D'Ovidio, Fabrizio;
    • Filippi, Massimo;
    • Calvo, Andrea
    Publication type:
    Article
    21

    Functioning and quality of life in patients with neuropathy associated with anti-MAG antibodies.

    Published in:
    Journal of Neurology, 2018, v. 265, n. 12, p. 2927, doi. 10.1007/s00415-018-9081-7
    By:
    • Falzone, Yuri M.;
    • Martinelli, Daniele;
    • Cerri, Federica;
    • Quattrini, Angelo;
    • Fazio, Raffaella;
    • Riva, Nilo;
    • Comi, Giancarlo;
    • Campagnolo, Marta;
    • Ruiz, Marta;
    • Briani, Chiara;
    • Bianco, Mariangela;
    • Nobile-Orazio, Eduardo;
    • Dacci, Patrizia;
    • Lauria, Giuseppe;
    • Bocci, Silvia;
    • Giannini, Fabio;
    • Benedetti, Luana
    Publication type:
    Article
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    Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 5/6, p. 397, doi. 10.3109/21678421.2013.764568
    By:
    • Beghi, Ettore;
    • Pupillo, Elisabetta;
    • Bonito, Virginio;
    • Buzzi, Paolo;
    • Caponnetto, Claudia;
    • Chiò, Adriano;
    • Corbo, Massimo;
    • Giannini, Fabio;
    • Inghilleri, Maurizio;
    • Bella, Vincenzo La;
    • Logroscino, Giancarlo;
    • Lorusso, Lorenzo;
    • Lunetta, Christian;
    • Mazzini, Letizia;
    • Messina, Paolo;
    • Mora, Gabriele;
    • Perini, Michele;
    • Quadrelli, Maria Lidia;
    • Silani, Vincenzo;
    • Simone, Isabella L.
    Publication type:
    Article
    25

    Antiangiogenic VEGF Isoform in Inflammatory Myopathies.

    Published in:
    Mediators of Inflammation, 2013, v. 2013, p. 1, doi. 10.1155/2013/219313
    By:
    • Volpi, Nila;
    • Pecorelli, Alessandra;
    • Lorenzoni, Paola;
    • Di Lazzaro, Francesco;
    • Belmonte, Giuseppe;
    • Aglianò, Margherita;
    • Cantarini, Luca;
    • Giannini, Fabio;
    • Grasso, Giovanni;
    • Valacchi, Giuseppe
    Publication type:
    Article
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    Genotype-phenotype correlation in Pompe disease, a step forward.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
    By:
    • De Filippi, Paola;
    • Saeidi, Kolsoum;
    • Ravaglia, Sabrina;
    • Dardis, Andrea;
    • Angelini, Corrado;
    • Mongini, Tiziana;
    • Morandi, Lucia;
    • Moggio, Maurizio;
    • Di Muzio, Antonio;
    • Filosto, Massimiliano;
    • Bembi, Bruno;
    • Giannini, Fabio;
    • Marrosu, Giovanni;
    • Rigoldi, Miriam;
    • Tonin, Paola;
    • Servidei, Serenella;
    • Siciliano, Gabriele;
    • Carlucci, Annalisa;
    • Scotti, Claudia;
    • Comelli, Mario
    Publication type:
    Article
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    Genotype-phenotype correlation in Pompe disease, a step forward.

    Published in:
    2014
    By:
    • De Filippi, Paola;
    • Saeidi, Kolsoum;
    • Ravaglia, Sabrina;
    • Dardis, Andrea;
    • Angelini, Corrado;
    • Mongini, Tiziana;
    • Morandi, Lucia;
    • Moggio, Maurizio;
    • Di Muzio, Antonio;
    • Filosto, Massimiliano;
    • Bembi, Bruno;
    • Giannini, Fabio;
    • Marrosu, Giovanni;
    • Rigoldi, Miriam;
    • Tonin, Paola;
    • Servidei, Serenella;
    • Siciliano, Gabriele;
    • Carlucci, Annalisa;
    • Scotti, Claudia;
    • Comelli, Mario
    Publication type:
    journal article
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    The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.

    Published in:
    2021
    By:
    • Bella, Eleonora Dalla;
    • Bersano, Enrica;
    • Antonini, Giovanni;
    • Borghero, Giuseppe;
    • Capasso, Margherita;
    • Caponnetto, Claudia;
    • Chiò, Adriano;
    • Corbo, Massimo;
    • Filosto, Massimiliano;
    • Giannini, Fabio;
    • Spataro, Rossella;
    • Lunetta, Christian;
    • Mandrioli, Jessica;
    • Messina, Sonia;
    • Monsurrò, Maria Rosaria;
    • Mora, Gabriele;
    • Riva, Nilo;
    • Rizzi, Romana;
    • Siciliano, Gabriele;
    • Silani, Vincenzo
    Publication type:
    journal article
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    The SMILE mission: science and technical status.

    Published in:
    Geophysical Research Abstracts, 2019, v. 21, p. 1
    By:
    • Escoubet, C.-Philippe;
    • Wang, Chi;
    • Branduardi-Raymont, Graziella;
    • Sembay, Steve;
    • Day, Lei;
    • Li, Lei;
    • Donovan, Eric;
    • Dimmock, Andrew;
    • Spanswick, Emma;
    • Sibeck, David;
    • Laakso, Harri;
    • Read, Andy;
    • Agnolon, David;
    • Raab, Walfried;
    • Runciman, Chris;
    • Giannini, Fabio;
    • Li, Jing;
    • Zheng, Jian-Hua;
    • Masson, Arnaud
    Publication type:
    Article
    39

    SOD1 mutations in amyotrophic lateral sclerosis.

    Published in:
    Journal of Neurology, 2005, v. 252, n. 7, p. 782, doi. 10.1007/s00415-005-0742-y
    By:
    • Battistini, Stefania;
    • Giannini, Fabio;
    • Greco, Giuseppe;
    • Bibbò, Giuseppe;
    • Ferrera, Loretta;
    • Marini, Valeria;
    • Causarano, Renzo;
    • Casula, Michela;
    • Lando, Giuliana;
    • Patrosso, Maria Cristina;
    • Caponnetto, Claudia;
    • Origone, Paola;
    • Marocchi, Alessandro;
    • Del Corona, Alberto;
    • Siciliano, Gabriele;
    • Carrera, Paola;
    • Mascia, Vincenzo;
    • Giagheddu, Marcello;
    • Carcassi, Carlo;
    • Orrù, Sandro
    Publication type:
    Article
    40

    Uncommon findings in idiopathic hypertrophic cranial pachymeningitis.

    Published in:
    Journal of Neurology, 2004, v. 251, n. 5, p. 548, doi. 10.1007/s00415-004-0362-y
    By:
    • Rossi, Simone;
    • Giannini, Fabio;
    • Cerase, Alfonso;
    • Bartalini, Sabina;
    • Tripodi, Sergio;
    • Volpi, Nila;
    • Vatti, Giampaolo;
    • Passero, Stefano;
    • Galluzzi, Paolo;
    • Ulivelli, Monica
    Publication type:
    Article
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