Found: 8

Select item for more details and to access through your institution.

  • The first two-year follow-up in a patient with isolated sensory neuronopathy due to biallelic expansion in RFC1 gene.

    Published in:
    2023
    By:
    • Tozza, Stefano;
    • Currò, Riccardo;
    • Severi, Daniele;
    • Marcelli, Vincenzo;
    • Cavaliere, Carlo;
    • Esposito, Gabriella;
    • Iodice, Rosa;
    • Cortese, Andrea;
    • Manganelli, Fiore
    Publication type:
    Letter

  • Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

    Published in:
    Movement Disorders, 2024, v. 39, n. 1, p. 209, doi. 10.1002/mds.29680
    By:
    • Quartesan, Ilaria;
    • Vegezzi, Elisa;
    • Currò, Riccardo;
    • Heslegrave, Amanda;
    • Pisciotta, Chiara;
    • Iruzubieta, Pablo;
    • Salvalaggio, Alessandro;
    • Fernández‐Eulate, Gorka;
    • Dominik, Natalia;
    • Rugginini, Bianca;
    • Manini, Arianna;
    • Abati, Elena;
    • Facchini, Stefano;
    • Manso, Katarina;
    • Albajar, Ines;
    • Laban, Rhiannon;
    • Rossor, Alexander M.;
    • Pichiecchio, Anna;
    • Cosentino, Giuseppe;
    • Saveri, Paola
    Publication type:
    Article

  • Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.

    Published in:
    Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1546, doi. 10.3390/biom13101546
    By:
    • Facchini, Stefano;
    • Dominik, Natalia;
    • Manini, Arianna;
    • Efthymiou, Stephanie;
    • Currò, Riccardo;
    • Rugginini, Bianca;
    • Vegezzi, Elisa;
    • Quartesan, Ilaria;
    • Perrone, Benedetta;
    • Kutty, Shahedah Koya;
    • Galassi Deforie, Valentina;
    • Schnekenberg, Ricardo P.;
    • Abati, Elena;
    • Pichiecchio, Anna;
    • Valente, Enza Maria;
    • Tassorelli, Cristina;
    • Reilly, Mary M.;
    • Houlden, Henry;
    • Bugiardini, Enrico;
    • Cortese, Andrea
    Publication type:
    Article

  • Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16063
    By:
    • Cortese, Andrea;
    • Currò, Riccardo;
    • Ronco, Riccardo;
    • Blake, Julian;
    • Rossor, Alex M.;
    • Bugiardini, Enrico;
    • Laurà, Matilde;
    • Warner, Tom;
    • Yousry, Tarek;
    • Poh, Roy;
    • Polke, James;
    • Rebelo, Adriana;
    • Dohrn, Maike F.;
    • Saporta, Mario;
    • Houlden, Henry;
    • Zuchner, Stephan;
    • Reilly, Mary M.
    Publication type:
    Article

  • Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
    By:
    • Currò, Riccardo;
    • Dominik, Natalia;
    • Facchini, Stefano;
    • Vegezzi, Elisa;
    • Sullivan, Roisin;
    • Deforie, Valentina Galassi;
    • Fernández-Eulate, Gorka;
    • Traschütz, Andreas;
    • Rossi, Salvatore;
    • Garibaldi, Matteo;
    • Kwarciany, Mariusz;
    • Taroni, Franco;
    • Brusco, Alfredo;
    • Good, Jean-Marc;
    • Cavalcanti, Francesca;
    • Hammans, Simon;
    • Ravenscroft, Gianina;
    • Roxburgh, Richard H;
    • group, RFC1 repeat expansion study;
    • Schnekenberg, Ricardo Parolin
    Publication type:
    Article

  • Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5060, doi. 10.1093/brain/awad240
    By:
    • Dominik, Natalia;
    • Magri, Stefania;
    • Currò, Riccardo;
    • Abati, Elena;
    • Facchini, Stefano;
    • Corbetta, Marinella;
    • Macpherson, Hannah;
    • Bella, Daniela Di;
    • Sarto, Elisa;
    • Stevanovski, Igor;
    • Chintalaphani, Sanjog R;
    • Akcimen, Fulya;
    • Manini, Arianna;
    • Vegezzi, Elisa;
    • Quartesan, Ilaria;
    • Montgomery, Kylie-Ann;
    • Pirota, Valentina;
    • Crespan, Emmanuele;
    • Perini, Cecilia;
    • Grupelli, Glenda Paola
    Publication type:
    Article

  • RFC1 expansions are a common cause of idiopathic sensory neuropathy.

    Published in:
    2021
    By:
    • Currò, Riccardo;
    • Salvalaggio, Alessandro;
    • Tozza, Stefano;
    • Gemelli, Chiara;
    • Dominik, Natalia;
    • Deforie, Valentina Galassi;
    • Magrinelli, Francesca;
    • Castellani, Francesca;
    • Vegezzi, Elisa;
    • Businaro, Pietro;
    • Callegari, Ilaria;
    • Pichiecchio, Anna;
    • Cosentino, Giuseppe;
    • Alfonsi, Enrico;
    • Marchioni, Enrico;
    • Colnaghi, Silvia;
    • Gana, Simone;
    • Valente, Enza Maria;
    • Tassorelli, Cristina;
    • Efthymiou, Stephanie
    Publication type:
    journal article

  • Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 1, p. 328, doi. 10.1007/s00415-022-11336-z
    By:
    • Vegezzi, Elisa;
    • Cortese, Andrea;
    • Bergsland, Niels;
    • Mussinelli, Roberta;
    • Paoletti, Matteo;
    • Solazzo, Francesca;
    • Currò, Riccardo;
    • Ascagni, Lucia;
    • Callegari, Ilaria;
    • Quartesan, Ilaria;
    • Lozza, Alessandro;
    • Deligianni, Xeni;
    • Santini, Francesco;
    • Marchioni, Enrico;
    • Cosentino, Giuseppe;
    • Alfonsi, Enrico;
    • Tassorelli, Cristina;
    • Bastianello, Stefano;
    • Merlini, Giampaolo;
    • Palladini, Giovanni
    Publication type:
    Article