Works by Siciliano, Gabriele

Results: 220
    1

    What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 6, p. 1, doi. 10.1111/ene.70240
    By:
    • Aleksovska, Katina;
    • Kyriakides, Theodoros;
    • Angelini, Corrado;
    • Argov, Zohar;
    • Claeys, Kristl G.;
    • de Visser, Marianne;
    • Filosto, Massimiliano;
    • Jovanovic, Ivanka;
    • Kostera‐Pruszczyk, Anna;
    • Molnar, Maria Julia;
    • Sacconi, Sabrina;
    • Schaefer, Jochen;
    • Siciliano, Gabriele;
    • Vilchez, Juan J.;
    • Toscano, Antonio;
    • Schoser, Benedikt
    Publication type:
    Article
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    Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

    Published in:
    Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
    By:
    • Ticci, Chiara;
    • Sicca, Federico;
    • Ardissone, Anna;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Diodato, Daria;
    • Di Vito, Lidia;
    • Filosto, Massimiliano;
    • La Morgia, Chiara;
    • Lamperti, Costanza;
    • Martinelli, Diego;
    • Moroni, Isabella;
    • Musumeci, Olimpia;
    • Orsucci, Daniele;
    • Pancheri, Elia;
    • Peverelli, Lorenzo;
    • Primiano, Guido;
    • Rubegni, Anna;
    • Servidei, Serenella;
    • Siciliano, Gabriele
    Publication type:
    Article
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    Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 12, p. 1761, doi. 10.1002/humu.23338
    By:
    • Barone, Virginia;
    • Del Re, Valeria;
    • Gamberucci, Alessandra;
    • Polverino, Valentina;
    • Galli, Lucia;
    • Rossi, Daniela;
    • Costanzi, Elisa;
    • Toniolo, Luana;
    • Berti, Gianna;
    • Malandrini, Alessandro;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Vattemi, Gaetano;
    • Tomelleri, Giuliano;
    • Pierantozzi, Enrico;
    • Spinozzi, Simone;
    • Volpi, Nila;
    • Fulceri, Rosella;
    • Battistutta, Roberto;
    • Reggiani, Carlo
    Publication type:
    Article
    7

    A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates.

    Published in:
    Human Mutation, 2014, v. 35, n. 10, p. 1163, doi. 10.1002/humu.22631
    By:
    • Rossi, Daniela;
    • Vezzani, Bianca;
    • Galli, Lucia;
    • Paolini, Cecilia;
    • Toniolo, Luana;
    • Pierantozzi, Enrico;
    • Spinozzi, Simone;
    • Barone, Virginia;
    • Pegoraro, Elena;
    • Bello, Luca;
    • Cenacchi, Giovanna;
    • Vattemi, Gaetano;
    • Tomelleri, Giuliano;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Protasi, Feliciano;
    • Reggiani, Carlo;
    • Sorrentino, Vincenzo
    Publication type:
    Article
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    Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

    Published in:
    Nucleus (1949-1034), 2018, v. 9, n. 1, p. 337, doi. 10.1080/19491034.2018.1467722
    By:
    • Bernasconi, Pia;
    • Carboni, Nicola;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Politano, Luisa;
    • Maggi, Lorenzo;
    • Mongini, Tiziana;
    • Vercelli, Liliana;
    • Rodolico, Carmelo;
    • Biagini, Elena;
    • Boriani, Giuseppe;
    • Ruggiero, Lucia;
    • Santoro, Lucio;
    • Schena, Elisa;
    • Prencipe, Sabino;
    • Evangelisti, Camilla;
    • Pegoraro, Elena;
    • Morandi, Lucia;
    • Columbaro, Marta;
    • Lanzuolo, Chiara
    Publication type:
    Article
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    Phenotype variabilities of laminopathies.

    Published in:
    European Journal of Translational Myology, 2023, v. 33, n. 2, p. 37, doi. 10.4081/ejtm.2023.11427
    By:
    • Siciliano, Gabriele;
    • Vadi, Gabriele;
    • Torri, Francesca;
    • Rende, Mariaconcetta;
    • Lattanzi, Giovanna;
    • Ricci, Giulia
    Publication type:
    Article
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    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
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    Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population.

    Published in:
    GeroScience, 2022, v. 44, n. 2, p. 881, doi. 10.1007/s11357-021-00477-0
    By:
    • Bacalini, Maria Giulia;
    • Palombo, Flavia;
    • Garagnani, Paolo;
    • Giuliani, Cristina;
    • Fiorini, Claudio;
    • Caporali, Leonardo;
    • Stanzani Maserati, Michelangelo;
    • Capellari, Sabina;
    • Romagnoli, Martina;
    • De Fanti, Sara;
    • Benussi, Luisa;
    • Binetti, Giuliano;
    • Ghidoni, Roberta;
    • Galimberti, Daniela;
    • Scarpini, Elio;
    • Arcaro, Marina;
    • Bonanni, Enrica;
    • Siciliano, Gabriele;
    • Maestri, Michelangelo;
    • Guarnieri, Biancamaria
    Publication type:
    Article
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    Plastic Changes in the Spinal Cord in Motor Neuron Disease.

    Published in:
    BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/670756
    By:
    • Fornai, Francesco;
    • Ferrucci, Michela;
    • Lenzi, Paola;
    • Falleni, Alessandra;
    • Biagioni, Francesca;
    • Flaibani, Marina;
    • Siciliano, Gabriele;
    • Giannessi, Francesco;
    • Paparelli, Antonio
    Publication type:
    Article
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    Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.

    Published in:
    Cells (2073-4409), 2020, v. 9, n. 6, p. 1532, doi. 10.3390/cells9061532
    By:
    • Cappelletti, Cristina;
    • Tramacere, Irene;
    • Cavalcante, Paola;
    • Schena, Elisa;
    • Politano, Luisa;
    • Carboni, Nicola;
    • Gambineri, Alessandra;
    • D'Amico, Adele;
    • Ruggiero, Lucia;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Boriani, Giuseppe;
    • Mongini, Tiziana Enrica;
    • Vercelli, Liliana;
    • Biagini, Elena;
    • Ziacchi, Matteo;
    • D'Apice, Maria Rosaria;
    • Lattanzi, Giovanna;
    • Mantegazza, Renato;
    • Maggi, Lorenzo
    Publication type:
    Article
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    Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

    Published in:
    Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
    By:
    • Musumeci, Olimpia;
    • Barca, Emanuele;
    • Lamperti, Costanza;
    • Servidei, Serenella;
    • Comi, Giacomo Pietro;
    • Moggio, Maurizio;
    • Mongini, Tiziana;
    • Siciliano, Gabriele;
    • Filosto, Massimiliano;
    • Pegoraro, Elena;
    • Primiano, Guido;
    • Ronchi, Dario;
    • Vercelli, Liliana;
    • Orsucci, Daniele;
    • Bello, Luca;
    • Zeviani, Massimo;
    • Mancuso, Michelangelo;
    • Toscano, Antonio
    Publication type:
    Article
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    Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington’s Disease.

    Published in:
    PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125259
    By:
    • Cesca, Federica;
    • Bregant, Elisa;
    • Peterlin, Borut;
    • Zadel, Maja;
    • Dubsky de Wittenau, Giorgia;
    • Siciliano, Gabriele;
    • Ceravolo, Roberto;
    • Petrozzi, Lucia;
    • Pauletto, Giada;
    • Verriello, Lorenzo;
    • Bergonzi, Paolo;
    • Damante, Giuseppe;
    • Barillari, Giovanni;
    • Lucci, Bruno;
    • Curcio, Francesco;
    • Lonigro, Incoronata Renata
    Publication type:
    Article
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    Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Published in:
    PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
    By:
    • Torella, Annalaura;
    • Fanin, Marina;
    • Mutarelli, Margherita;
    • Peterle, Enrico;
    • Del Vecchio Blanco, Francesca;
    • Rispoli, Rossella;
    • Savarese, Marco;
    • Garofalo, Arcomaria;
    • Piluso, Giulio;
    • Morandi, Lucia;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Angelini, Corrado;
    • Nigro, Vincenzo
    Publication type:
    Article
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    Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.

    Published in:
    FASEB Journal, 2016, v. 30, n. 10, p. 3285, doi. 10.1096/fj.201500079R
    By:
    • Imbrici, Paola;
    • Altamura, Concetta;
    • Camerino, Giulia Maria;
    • Mangiatordi, Giuseppe Felice;
    • Conte, Elena;
    • Maggi, Lorenzo;
    • Brugnoni, Raffaella;
    • Musaraj, Kejla;
    • Caloiero, Roberta;
    • Alberga, Domenico;
    • Marsano, Renè Massimiliano;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Nicolotti, Orazio;
    • Mora, Marina;
    • Bernasconi, Pia;
    • Desaphy, Jean-Francois;
    • Mantegazza, Renato;
    • Camerino, Diana Conte
    Publication type:
    Article
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    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 8, p. 2220
    By:
    • Fogh, Isabella;
    • Ratti, Antonia;
    • Gellera, Cinzia;
    • Lin, Kuang;
    • Tiloca, Cinzia;
    • Moskvina, Valentina;
    • Corrado, Lucia;
    • Sorarù, Gianni;
    • Cereda, Cristina;
    • Corti, Stefania;
    • Gentilini, Davide;
    • Calini, Daniela;
    • Castellotti, Barbara;
    • Mazzini, Letizia;
    • Querin, Giorgia;
    • Gagliardi, Stella;
    • Del Bo, Roberto;
    • Conforti, Francesca L.;
    • Siciliano, Gabriele;
    • Inghilleri, Maurizio
    Publication type:
    Article
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    Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
    By:
    • Strafella, Claudia;
    • Colantoni, Luca;
    • Megalizzi, Domenica;
    • Trastulli, Giulia;
    • Piorgo, Emma Proietti;
    • Primiano, Guido;
    • Sancricca, Cristina;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Caltagirone, Carlo;
    • Filosto, Massimiliano;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Cascella, Raffaella;
    • Giardina, Emiliano
    Publication type:
    Article
    48

    Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2922, doi. 10.1002/ajmg.a.36725
    By:
    • Mancuso, Michelangelo;
    • Nesti, Claudia;
    • Ienco, Elena Caldarazzo;
    • Orsucci, Daniele;
    • Pizzanelli, Chiara;
    • Chiti, Alberto;
    • Giorgi, Filippo S;
    • Meschini, Maria Chiara;
    • Fontanini, Gabriella;
    • Santorelli, Filippo Maria;
    • Logerfo, Annalisa;
    • Romano, Alessandro;
    • Siciliano, Gabriele;
    • Bonuccelli, Ubaldo
    Publication type:
    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