• 1388 Citations
  • 19 h-Index
20062019
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Fingerprint Dive into the research topics where Cinzia Tiloca is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Genome Medicine & Life Sciences
Profilins Medicine & Life Sciences
Frontotemporal Dementia Medicine & Life Sciences

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Research Output 2006 2019

  • 1388 Citations
  • 19 h-Index
  • 50 Article
  • 1 Letter

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H. J., Gkazi, A. S., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. L. M. A., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E., Shaw, P. J. & 13 others, Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., Nov 1 2018, In : Neurobiology of Aging. 71, p. 266.e1-266.e10

Research output: Contribution to journalArticle

Phosphotransferases
Mutation
Missense Mutation
Phosphorylation
Exome
6 Citations (Scopus)

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H. J., Gkazi, A. S., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. L. M. A., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E., Shaw, P. J. & 13 others, Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., Nov 1 2018, In : Neurobiology of Aging. 71, p. 266.e1-266.e10

Research output: Contribution to journalArticle

Phosphotransferases
Mutation
Missense Mutation
Phosphorylation
Exome
1 Citation (Scopus)

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases

Corrado, L., Tiloca, C., Locci, C., Bagarotti, A., Hamzeiy, H., Colombrita, C., De marchi, F., Barizzone, N., Cotella, D., Ticozzi, N., Mazzini, L., Nazli Basak, A. Y. S. E., Ratti, A., Silani, V. & D’alfonso, S., Jul 3 2018, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 19, 5-6, p. 426-431 6 p.

Research output: Contribution to journalArticle

GC Rich Sequence
Amyotrophic Lateral Sclerosis
Genes
7 Citations (Scopus)

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2

Hamzeiy, H., Savaş, D., Tunca, C., Şen, N. E., Gündoǧdu Eken, A., Şahbaz, I., Calini, D., Tiloca, C., Ticozzi, N., Ratti, A., Silani, V. & Başak, A. N., Mar 1 2018, In : Neurodegenerative Diseases. 18, 1, p. 38-48 11 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
5-Methylcytosine
Amyotrophic Lateral Sclerosis
DNA Methylation
Epigenomics