Alfina A. Speciale

AR cooperates with SMAD4 to maintain skeletal muscle homeostasis

Laura C. Zanetti-Domingues, Laura C Zanetti-Domingues, L. Greensmith, 2022, Acta Neuropathologica.

Modelling Neuromuscular Diseases in the Age of Precision Medicine

C. Rinaldi, Alfina A. Speciale, Ruth Ellerington, 2020, Journal of personalized medicine.

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

R. Barker, M. Wood, D. Goberdhan, 2021, Nature Communications.

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

K. Fischbeck, Jesse Dabney, A. Khvorova, 2021, Science Advances.

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

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, Brain communications.

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, medRxiv.