Modelling Neuromuscular Diseases in the Age of Precision Medicine

por Speciale, Alfina A., Ellerington, Ruth, Goedert, Thomas, Rinaldi, Carlo
Publicado 2020

AR cooperates with SMAD4 to maintain skeletal muscle homeostasis

por 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
Publicado 2022

GAPDH controls extracellular vesicle biogenesis and enhances the therapeutic potential of EV mediated siRNA delivery to the brain

por Dar, Ghulam Hassan, Mendes, Cláudia C., Kuan, Wei-Li, Speciale, Alfina A., Conceição, Mariana, Görgens, André, Uliyakina, Inna, Lobo, Miguel J., Lim, Wooi F., EL Andaloussi, Samir, Mäger, Imre, Roberts, Thomas C., Barker, Roger A., Goberdhan, Deborah C. I., Wilson, Clive, Wood, Matthew J. A.
Publicado 2021

Author Correction: GAPDH controls extracellular vesicle biogenesis and enhances the therapeutic potential of EV mediated siRNA delivery to the brain

por Dar, Ghulam Hassan, Mendes, Cláudia C., Kuan, Wei-Li, Speciale, Alfina A., Conceição, Mariana, Görgens, André, Uliyakina, Inna, Lobo, Miguel J., Lim, Wooi F., EL Andaloussi, Samir, Mäger, Imre, Roberts, Thomas C., Barker, Roger A., Goberdhan, Deborah C. I., Wilson, Clive, Wood, Matthew J. A.
Publicado 2021

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

por Lim, Wooi F., Forouhan, Mitra, Roberts, Thomas C., Dabney, Jesse, Ellerington, Ruth, Speciale, Alfina A., Manzano, Raquel, Lieto, Maria, Sangha, Gavinda, Banerjee, Subhashis, Conceição, Mariana, Cravo, Lara, Biscans, Annabelle, Roux, Loïc, Pourshafie, Naemeh, Grunseich, Christopher, Duguez, Stephanie, Khvorova, Anastasia, Pennuto, Maria, Cortes, Constanza J., La Spada, Albert R., Fischbeck, Kenneth H., Wood, Matthew J.A., Rinaldi, Carlo
Publicado 2021

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

por 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, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo
Publicado 2021