Found: 5

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  • 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

  • Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development.

    Published in:
    PLoS Genetics, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pgen.1003074
    By:
    • Lise, Stefano;
    • Clarkson, Yvonne;
    • Perkins, Emma;
    • Kwasniewska, Alexandra;
    • Akha, Elham Sadighi;
    • Schnekenberg, Ricardo Parolin;
    • Suminaite, Daumante;
    • Hope, Jilly;
    • Baker, Ian;
    • Gregory, Lorna;
    • Green, Angie;
    • Allan, Chris;
    • Lamble, Sarah;
    • Jayawant, Sandeep;
    • Quaghebeur, Gerardine;
    • Cader, M. Zameel;
    • Hughes, Sarah;
    • Armstrong, Richard J. E.;
    • Kanapin, Alexander;
    • Rimmer, Andrew
    Publication type:
    Article

  • De novo point mutations in patients diagnosed with ataxic cerebral palsy.

    Published in:
    2015
    By:
    • Schnekenberg, Ricardo Parolin;
    • Perkins, Emma M.;
    • Miller, Jack W.;
    • Davies, Wayne I. L.;
    • D'Adamo, Maria Cristina;
    • Pessia, Mauro;
    • Fawcett, Katherine A.;
    • Sims, David;
    • Gillard, Elodie;
    • Hudspith, Karl;
    • Skehel, Paul;
    • Williams, Jonathan;
    • O'Regan, Mary;
    • Jayawant, Sandeep;
    • Jefferson, Rosalind;
    • Hughes, Sarah;
    • Lustenberger, Andrea;
    • Ragoussis, Jiannis;
    • Jackson, Mandy;
    • Tucker, Stephen J.
    Publication type:
    journal article

  • Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
    By:
    • Németh, Andrea H.;
    • Kwasniewska, Alexandra C.;
    • Lise, Stefano;
    • Parolin Schnekenberg, Ricardo;
    • Becker, Esther B. E.;
    • Bera, Katarzyna D.;
    • Shanks, Morag E.;
    • Gregory, Lorna;
    • Buck, David;
    • Zameel Cader, M.;
    • Talbot, Kevin;
    • de Silva, Rajith;
    • Fletcher, Nicholas;
    • Hastings, Rob;
    • Jayawant, Sandeep;
    • Morrison, Patrick J.;
    • Worth, Paul;
    • Taylor, Malcolm;
    • Tolmie, John;
    • O’Regan, Mary
    Publication type:
    Article

  • Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

    Published in:
    Movement Disorders, 2024, v. 39, n. 1, p. 141, doi. 10.1002/mds.29651
    By:
    • Tolonen, Jussi Pekka;
    • Parolin Schnekenberg, Ricardo;
    • McGowan, Simon;
    • Sims, David;
    • McEntagart, Meriel;
    • Elmslie, Frances;
    • Shears, Debbie;
    • Stewart, Helen;
    • Tofaris, George K.;
    • Dabir, Tabib;
    • Morrison, Patrick J.;
    • Johnson, Diana;
    • Hadjivassiliou, Marios;
    • Ellard, Sian;
    • Shaw‐Smith, Charles;
    • Znaczko, Anna;
    • Dixit, Abhijit;
    • Suri, Mohnish;
    • Sarkar, Ajoy;
    • Harrison, Rachel E.
    Publication type:
    Article