Sabatelli, Mario

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 1,235

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Majounie, E., Renton, A. E., Mok, K., Dopper, E. G., Waite, A., Rollinson, S., Chiò, A., Restagno, G., Nicolaou, N., Simon-Sanchez, J., et al. (2012) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 1,210

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Adams, D., Polydefkis, M., González-Duarte, A., Wixner, J., Kristen, A. V., Schmidt, H. H., Berk, J. L., Losada López, I. A., Dispenzieri, A., Quan, D., et al. (2021) · The Lancet Neurology

Amyloidosis: Diagnosis, Treatment, OutcomesAlzheimer's disease research and treatments

Cited by 158

Factors predicting survival in ALS: a multicenter Italian study

Calvo, A., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Ferrante, G. D., Scialo, C., Sorarù, G., Trojsi, F., Conte, A., et al. (2017) · Journal of Neurology

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders Research

Cited by 122

Lithium carbonate in amyotrophic lateral sclerosis: Lack of efficacy in a dose-finding trial

Chiò, A., Borghero, G., Calvo, A., Capasso, M., Caponnetto, C., Corbo, M., Giannini, F., Logroscino, G., Mandrioli, J., Marcello, N., et al. (2010) · Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 96

Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis

Mandrioli, J., Ferri, L., Fasano, A., Zucchi, E., Fini, N., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Drago Ferrante, G., et al. (2018) · European Journal of Neurology

Amyotrophic Lateral Sclerosis ResearchAmyloidosis: Diagnosis, Treatment, Outcomes

Cited by 49

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Luigetti, M., Quaranta, D., Conte, A., Piccininni, C., Lattante, S., Romano, A., Silvestri, G., Zollino, M., & Sabatelli, M. (2013) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 15