Works matching DE "FACIOSCAPULOHUMERAL muscular dystrophy"

Results: 891
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    A Peculiar CLL Case with Complex Chromosome 6 Rearrangements and Refinement of All Breakpoints at the Gene Level by Genomic Array: A Case Report.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4110, doi. 10.3390/jcm12124110
    By:
    • Cennamo, Michele;
    • Sirocchi, Davide;
    • Giudici, Carolina;
    • Giagnacovo, Marzia;
    • Petracco, Guido;
    • Ferrario, Daniela;
    • Garganigo, Simona;
    • Papa, Angela;
    • Veniani, Emanuela;
    • Squizzato, Alessandro;
    • Del Vecchio, Lucia;
    • Patriarca, Carlo;
    • Partenope, Michelarcangelo;
    • Modena, Piergiorgio
    Publication type:
    Article
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    Therapeutic Strategies Targeting DUX4 in FSHD.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2886, doi. 10.3390/jcm9092886
    By:
    • Le Gall, Laura;
    • Sidlauskaite, Eva;
    • Mariot, Virginie;
    • Dumonceaux, Julie
    Publication type:
    Article
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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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    The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.735488
    By:
    • Veneruso, Marco;
    • Fiorillo, Chiara;
    • Broda, Paolo;
    • Baratto, Serena;
    • Traverso, Monica;
    • Donati, Alice;
    • Savasta, Salvatore;
    • Falsaperla, Raffaele;
    • Mancardi, Maria Margherita;
    • Pedemonte, Marina;
    • Panicucci, Chiara;
    • Piatelli, Gianluca;
    • Pacetti, Mattia;
    • Moscatelli, Andrea;
    • Ramenghi, Luca Antonio;
    • Nobili, Lino;
    • Minetti, Carlo;
    • Bruno, Claudio
    Publication type:
    Article
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    Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD).

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668180
    By:
    • Ducharme-Smith, Allison;
    • Nicolau, Stefan;
    • Chahal, C. Anwar A.;
    • Ducharme-Smith, Kirstie;
    • Rehman, Shujah;
    • Jaliparthy, Keerthi;
    • Khan, Nadeem;
    • Scott, Christopher G.;
    • St Louis, Erik K.;
    • Liewluck, Teerin;
    • Somers, Virend K.;
    • Lin, Grace;
    • Brady, Peter A.;
    • Milone, Margherita
    Publication type:
    Article
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    Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests.

    Published in:
    Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.634766
    By:
    • Nuñez-Peralta, Claudia;
    • Montesinos, Paula;
    • Alonso-Jiménez, Alicia;
    • Alonso-Pérez, Jorge;
    • Reyes-Leiva, David;
    • Sánchez-González, Javier;
    • Llauger-Roselló, Jaume;
    • Segovia, Sonia;
    • Belmonte, Izaskun;
    • Pedrosa, Irene;
    • Martínez-Noguera, Antonio;
    • Matellini-Mosca, Briano;
    • Walter, Glenn;
    • Díaz-Manera, Jordi
    Publication type:
    Article
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    Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

    Published in:
    Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00484-4
    By:
    • Meza-Espinoza, Juan Pablo;
    • Sáinz González, Enrique;
    • León-León, Christian J. N.;
    • Arámbula-Meraz, Eliakym;
    • Contreras-Gutiérrez, José Alfredo;
    • García-Magallanes, Noemí;
    • Madueña-Molina, Jesús;
    • Luque-Ortega, Fred;
    • Cervín-Serrano, Salvador;
    • Picos-Cárdenas, Verónica Judith
    Publication type:
    Article
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    ANALYSIS OF MUSCLE CALPAIN-3 IN LGMD 2A.

    Published in:
    Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2008, v. 18, p. 181
    By:
    • Gaina, Gisela;
    • Manole, Emilia;
    • Bordea, Cristina;
    • Ionica, Elena
    Publication type:
    Article
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