Ferlini, Alessandra

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains

Di Rienzo, M., Antonioli, M., Fusco, C., Liu, Y., Mari, M., Orhon, I., Refolo, G., Germani, F., Corazzari, M., Romagnoli, A., et al. (2019) · Science Advances

Muscle Physiology and DisordersAutophagy in Disease and Therapy

Cited by 107

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

Toffolatti, L., Cardazzo, B., Nobile, C., Danieli, G. A., Gualandi, F., Muntoni, F., Abbs, S., Zanetti, P., Angelini, C., Ferlini, A., et al. (2002) · Genomics

Muscle Physiology and DisordersGenomic variations and chromosomal abnormalities

Cited by 80

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E., et al. (2013) · neurogenetics

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 41

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies

De Palma, S., Capitanio, D., Vasso, M., Braghetta, P., Scotton, C., Bonaldo, P., Lochmüller, H., Muntoni, F., Ferlini, A., & Gelfi, C. (2014) · Journal of Proteome Research

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 40