Works matching AU Tasca, Giorgio

Results: 173
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    A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565868
    By:
    • D'Amico, Adele;
    • Fattori, Fabiana;
    • Nicita, Francesco;
    • Barresi, Sabina;
    • Tasca, Giorgio;
    • Verardo, Margherita;
    • Pizzi, Simone;
    • Moroni, Isabella;
    • De Mitri, Francesca;
    • Frongia, Annalia;
    • Pane, Marika;
    • Mercuri, Eugenio;
    • Tartaglia, Marco;
    • Bertini, Enrico
    Publication type:
    Article
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    Testing a stepped care model for binge-eating disorder: a two-step randomized controlled trial.

    Published in:
    Psychological Medicine, 2019, v. 49, n. 4, p. 598, doi. 10.1017/S0033291718001277
    By:
    • Tasca, Giorgio A.;
    • Koszycki, Diana;
    • Brugnera, Agostino;
    • Chyurlia, Livia;
    • Hammond, Nicole;
    • Francis, Kylie;
    • Ritchie, Kerri;
    • Ivanova, Iryna;
    • Proulx, Genevieve;
    • Wilson, Brian;
    • Beaulac, Julie;
    • Bissada, Hany;
    • Beasley, Erin;
    • Mcquaid, Nancy;
    • Grenon, Renee;
    • Fortin-Langelier, Benjamin;
    • Compare, Angelo;
    • Balfour, Louise
    Publication type:
    Article
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    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 5, p. 557, doi. 10.1001/jamaneurol.2017.4899
    By:
    • Savarese, Marco;
    • Maggi, Lorenzo;
    • Vihola, Anna;
    • Jonson, Per Harald;
    • Tasca, Giorgio;
    • Ruggiero, Lucia;
    • Bello, Luca;
    • Magri, Francesca;
    • Giugliano, Teresa;
    • Torella, Annalaura;
    • Evilä, Anni;
    • Di Fruscio, Giuseppina;
    • Vanakker, Olivier;
    • Gibertini, Sara;
    • Vercelli, Liliana;
    • Ruggieri, Alessandra;
    • Antozzi, Carlo;
    • Luque, Helena;
    • Janssens, Sandra;
    • Pasanisi, Maria Barbara
    Publication type:
    Article
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    Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 1, p. 32, doi. 10.1001/jamaneurol.2013.4908
    By:
    • Anthony, Karen;
    • Arechavala-Gomeza, Virginia;
    • Ricotti, Valeria;
    • Torelli, Silvia;
    • Feng, Lucy;
    • Janghra, Narinder;
    • Tasca, Giorgio;
    • Guglieri, Michela;
    • Barresi, Rita;
    • Armaroli, Annarita;
    • Ferlini, Alessandra;
    • Bushby, Katherine;
    • Straub, Volker;
    • Ricci, Enzo;
    • Sewry, Caroline;
    • Morgan, Jennifer;
    • Muntoni, Francesco
    Publication type:
    Article
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    Redox Homeostasis in Muscular Dystrophies.

    Published in:
    Cells (2073-4409), 2021, v. 10, n. 6, p. 1364, doi. 10.3390/cells10061364
    By:
    • Mosca, Nicola;
    • Petrillo, Sara;
    • Bortolani, Sara;
    • Monforte, Mauro;
    • Ricci, Enzo;
    • Piemonte, Fiorella;
    • Tasca, Giorgio
    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
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    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
    By:
    • Sarparanta, Jaakko;
    • Jonson, Per Harald;
    • Golzio, Christelle;
    • Sandell, Satu;
    • Luque, Helena;
    • Screen, Mark;
    • McDonald, Kristin;
    • Stajich, Jeffrey M;
    • Mahjneh, Ibrahim;
    • Vihola, Anna;
    • Raheem, Olayinka;
    • Penttilä, Sini;
    • Lehtinen, Sara;
    • Huovinen, Sanna;
    • Palmio, Johanna;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Hackman, Peter;
    • Hauser, Michael;
    • Katsanis, Nicholas
    Publication type:
    Article
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    Assessment of stigma in patients with cystic fibrosis.

    Published in:
    BMC Pulmonary Medicine, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2466-14-76
    By:
    • Pakhale, Smita;
    • Armstrong, Michael;
    • Holly, Crystal;
    • Edjoc, Rojiemiahd;
    • Gaudet, Ena;
    • Aaron, Shawn;
    • Tasca, Giorgio;
    • Cameron, William;
    • Balfour, Louise
    Publication type:
    Article
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    POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

    Published in:
    2016
    By:
    • Schindler, Roland F. R.;
    • Scotton, Chiara;
    • Jianguo Zhang;
    • Passarelli, Chiara;
    • Ortiz-Bonnin, Beatriz;
    • Simrick, Subreena;
    • Schwerte, Thorsten;
    • Kar-Lai Poon;
    • Mingyan Fang;
    • Rinné, Susanne;
    • Froese, Alexander;
    • Nikolaev, Viacheslav O.;
    • Grunert, Christiane;
    • Müller, Thomas;
    • Tasca, Giorgio;
    • Sarathchandra, Padmini;
    • Drago, Fabrizio;
    • Dallapiccola, Bruno;
    • Rapezzi, Claudio;
    • Arbustini, Eloisa
    Publication type:
    journal article
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    To the Editor.

    Published in:
    2017
    By:
    • Monforte, Mauro;
    • Servidei, Serenella;
    • Ricci, Enzo;
    • Tasca, Giorgio
    Publication type:
    Letter to the Editor
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    Attachment anxiety, reflective functioning and well‐being as predictors of burn‐out and psychological distress among psychotherapists: A longitudinal study.

    Published in:
    Clinical Psychology & Psychotherapy, 2023, v. 30, n. 3, p. 587, doi. 10.1002/cpp.2823
    By:
    • Brugnera, Agostino;
    • Zarbo, Cristina;
    • Scalabrini, Andrea;
    • Compare, Angelo;
    • Mucci, Clara;
    • Carrara, Silvia;
    • Tasca, Giorgio Angelo;
    • Hewitt, Paul;
    • Greco, Andrea;
    • Poletti, Barbara;
    • Esposito, Rosy;
    • Cattafi, Francesco;
    • Zullo, Claudio;
    • Lo Coco, Gianluca
    Publication type:
    Article
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    Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy.

    Published in:
    Muscle & Nerve, 2024, v. 70, n. 2, p. 248, doi. 10.1002/mus.28179
    By:
    • Barzaghi, Leonardo;
    • Paoletti, Matteo;
    • Monforte, Mauro;
    • Bortolani, Sara;
    • Bonizzoni, Chiara;
    • Thorsten, Feiweier;
    • Bergsland, Niels;
    • Santini, Francesco;
    • Deligianni, Xeni;
    • Tasca, Giorgio;
    • Ballante, Elena;
    • Figini, Silvia;
    • Ricci, Enzo;
    • Pichiecchio, Anna
    Publication type:
    Article
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    The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

    Published in:
    2017
    By:
    • Magri, Francesca;
    • Nigro, Vincenzo;
    • Angelini, Corrado;
    • Mongini, Tiziana;
    • Mora, Marina;
    • Moroni, Isabella;
    • Toscano, Antonio;
    • D'angelo, Maria Grazia;
    • Tomelleri, Giuliano;
    • Siciliano, Gabriele;
    • Ricci, Giulia;
    • Bruno, Claudio;
    • Corti, Stefania;
    • Musumeci, Olimpia;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Monforte, Mauro;
    • Sciacco, Monica;
    • Fiorillo, Chiara;
    • Gandossini, Sandra
    Publication type:
    journal article
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    Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

    Published in:
    Journal of Neurology, 2025, v. 272, n. 7, p. 1, doi. 10.1007/s00415-025-13126-9
    By:
    • Riguzzi, Pietro;
    • Borland, Holly;
    • James, Meredith K.;
    • Bourke, John;
    • Bettolo, Chiara Marini;
    • Lofra, Robert Muni;
    • Diaz-Manera, Jordi;
    • Tasca, Giorgio;
    • Schiava, Marianela;
    • ElSeed, Maha;
    • Harris, Elizabeth;
    • Grover, Emma;
    • Geagan, Chloe;
    • Diaz, Carla Bolano;
    • Haagsma, Ariele Barreto;
    • Salman, Doaa;
    • Reeves, Tara;
    • Kocak, Goknur S.;
    • Robinson, Emma;
    • Waldock, Peter
    Publication type:
    Article