Fratta, Pietro

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Mizielinska, S., Grönke, S., Niccoli, T., Ridler, C. E., Clayton, E. L., Devoy, A., Moens, T., Norona, F. E., Woollacott, I. O. C., Pietrzyk, J., et al. (2014) · Science

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 740

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 575

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis

Lu, C.-H., Macdonald-Wallis, C., Gray, E., Pearce, N., Petzold, A., Norgren, N., Giovannoni, G., Fratta, P., Sidle, K., Fish, M., et al. (2015) · Neurology

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 563

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Beck, J., Poulter, M., Hensman, D., Rohrer, J. D., Mahoney, C. J., Adamson, G., Campbell, T., Uphill, J., Borg, A., Fratta, P., et al. (2013) · The American Journal of Human Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 345

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

Tam, O. H., Rozhkov, N. V., Shaw, R., Kim, D., Hubbard, I., Fennessey, S., Propp, N., Phatnani, H., Kwan, J., Sareen, D., et al. (2019) · Cell Reports

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 327

The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia

Abramzon, Y. A., Fratta, P., Traynor, B. J., & Chia, R. (2020) · Frontiers in Neuroscience

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 244

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

Prudencio, M., Humphrey, J., Pickles, S., Brown, A.-L., Hill, S. E., Kachergus, J. M., Shi, J., Heckman, M. G., Spiegel, M. R., Cook, C., et al. (2020) · Journal of Clinical Investigation

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 231

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

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

Humphrey, J., Venkatesh, S., Hasan, R., Herb, J. T., de Paiva Lopes, K., Küçükali, F., Byrska-Bishop, M., Evani, U. S., Narzisi, G., Fagegaltier, D., et al. (2023) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchSingle-cell and spatial transcriptomics

Cited by 138

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Shepheard, S. R., Parker, M. D., Cooper-Knock, J., Verber, N. S., Tuddenham, L., Heath, P., Beauchamp, N., Place, E., Sollars, E. S. A., Turner, M. R., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 116

Proteasome Inhibition and Aggresome Formation in Sporadic Inclusion-Body Myositis and in Amyloid-β Precursor Protein-Overexpressing Cultured Human Muscle Fibers

Fratta, P., Engel, W. K., McFerrin, J., Davies, K. J. A., Lin, S. W., & Askanas, V. (2005) · The American Journal of Pathology

Inflammatory Myopathies and DermatomyositisMuscle Physiology and Disorders

Cited by 111

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

Lombardi, V., Querin, G., Ziff, O. J., Zampedri, L., Martinelli, I., Heller, C., Foiani, M., Bertolin, C., Lu, C.-H., Malik, B., et al. (2019) · Neurology

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 73