Found: 4

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  • AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.

    Published in:
    Acta Neuropathologica, 2022, v. 143, n. 6, p. 713, doi. 10.1007/s00401-022-02428-1
    By:
    • Forouhan, Mitra;
    • Lim, Wooi Fang;
    • Zanetti-Domingues, Laura C.;
    • Tynan, Christopher J.;
    • Roberts, Thomas C.;
    • Malik, Bilal;
    • Manzano, Raquel;
    • Speciale, Alfina A.;
    • Ellerington, Ruth;
    • Garcia-Guerra, Antonio;
    • Fratta, Pietro;
    • Sorarú, Gianni;
    • Greensmith, Linda;
    • Pennuto, Maria;
    • Wood, Matthew J. A.;
    • Rinaldi, Carlo
    Publication type:
    Article

  • Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.

    Published in:
    Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245
    By:
    • Bott, Laura C.;
    • Forouhan, Mitra;
    • Lieto, Maria;
    • Sala, Ambre J.;
    • Ellerington, Ruth;
    • Johnson, Janel O.;
    • Speciale, Alfina A.;
    • Criscuolo, Chiara;
    • Filla, Alessandro;
    • Chitayat, David;
    • Alkhunaizi, Ebba;
    • Shannon, Patrick;
    • Nemeth, Andrea H.;
    • Angelucci, Francesco;
    • Wooi Fang Lim;
    • Striano, Pasquale;
    • Zara, Federico;
    • Helbig, Ingo;
    • Muona, Mikko;
    • Courage, Carolina
    Publication type:
    Article

  • Control of backbone chemistry and chirality boost oligonucleotide splice switching activity.

    Published in:
    Nucleic Acids Research, 2022, v. 50, n. 10, p. 5443, doi. 10.1093/nar/gkac018
    By:
    • Kandasamy, Pachamuthu;
    • McClorey, Graham;
    • Shimizu, Mamoru;
    • Kothari, Nayantara;
    • Alam, Rowshon;
    • Naoki Iwamoto;
    • Kumarasamy, Jayakanthan;
    • Bommineni, Gopal R.;
    • Bezigian, Adam;
    • Chivatakarn, Onanong;
    • Butler, David C. D.;
    • Byrne, Michael;
    • Chwalenia, Katarzyna;
    • Davies, Kay E.;
    • Desai, Jigar;
    • Shelke, Juili Dilip;
    • Durbin, Ann F.;
    • Ellerington, Ruth;
    • Edwards, Ben;
    • Godfrey, Jack
    Publication type:
    Article

  • Modelling Neuromuscular Diseases in the Age of Precision Medicine.

    Published in:
    Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 178, doi. 10.3390/jpm10040178
    By:
    • Speciale, Alfina A.;
    • Ellerington, Ruth;
    • Goedert, Thomas;
    • Rinaldi, Carlo
    Publication type:
    Article