Gellera, Cinzia

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 2,786

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

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Moss, D. J. H., Pardiñas, A. F., Langbehn, D., Lo, K., Leavitt, B. R., Roos, R., Durr, A., Mead, S., Coleman, A., Santos, R. D., et al. (2017) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenetic Associations and Epidemiology

Cited by 312

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Salsano, E., Tabano, S., Sirchia, S. M., Colapietro, P., Castellotti, B., Gellera, C., Rimoldi, M., Pensato, V., Mariotti, C., Pareyson, D., et al. (2012) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 32

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Mosca, R., van de Vlekkert, D., Campos, Y., Fremuth, L. E., Cadaoas, J., Koppaka, V., Kakkis, E., Tifft, C., Toro, C., Allievi, S., et al. (2020) · Journal of Clinical Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 27

Optical coherence tomography in adult adrenoleukodystrophy: A cross-sectional and longitudinal study.

Bianchi-Marzoli, S., Fenu, S., Melzi, L., Benzoni, C., Antonazzo, F., Tomas Roldan, E., Farina, L., Tremolada, G., Mauro, E., Pensato, V., et al. (2021) · Neurological Sciences

Glaucoma and retinal disordersMetabolism and Genetic Disorders

Cited by 5