Giunti, Paola

Scale for the assessment and rating of ataxia: Development of a new clinical scale

Schmitz-Hübsch, T., du Montcel, S. T., Baliko, L., Berciano, J., Boesch, S., Depondt, C., Giunti, P., Globas, C., Infante, J., Kang, J. S., et al. (2006) · Neurology

Genetic Neurodegenerative DiseasesBalance, Gait, and Falls Prevention

Cited by 1,967

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Bettencourt, C., Hensman‐Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., Stevanin, G., Koutsis, G., Karadima, G., Panas, M., et al. (2016) · Annals of Neurology

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 227

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Fassihi, H., Sethi, M., Fawcett, H., Wing, J., Chandler, N., Mohammed, S., Craythorne, E., Morley, A. M. S., Lim, R., Turner, S., et al. (2016) · Proceedings of the National Academy of Sciences

DNA Repair MechanismsGenetic and rare skin diseases.

Cited by 199

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia

Abeti, R., Parkinson, M. H., Hargreaves, I. P., Angelova, P. R., Sandi, C., Pook, M. A., Giunti, P., & Abramov, A. Y. (2016) · Cell Death & Disease

Mitochondrial Function and PathologyGenetic Neurodegenerative Diseases

Cited by 133

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

Garcia‐Moreno, H., Prudencio, M., Thomas‐Black, G., Solanky, N., Jansen‐West, K. R., Hanna AL‐Shaikh, R., Heslegrave, A., Zetterberg, H., Santana, M. M., Pereira de Almeida, L., et al. (2022) · European Journal of Neurology

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 49