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Fingerprint Dive into the research topics where Cinzia Gellera is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Mutation Medicine & Life Sciences
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Genes Medicine & Life Sciences
Huntington Disease Medicine & Life Sciences
Friedreich Ataxia Medicine & Life Sciences
Spinocerebellar Ataxias Medicine & Life Sciences
Age of Onset Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1986 2019

  • 8843 Citations
  • 46 h-Index
  • 190 Article
  • 3 Letter

Expanding the central nervous system disease spectrum associated with FLNC mutation

Previtali, S. C., Scarlato, M., Vezzulli, P., Ruggieri, A., Velardo, D., Benedetti, S., Torini, G., Colombo, B., Maggi, L., Di Bella, D., Gellera, C., D'Angelo, G. & Mora, M., Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalArticle

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

Canafoglia, L., Castellotti, B., Ragona, F., Freri, E., Granata, T., Chiapparini, L., Gellera, C., Scaioli, V., Franceschetti, S. & DiFrancesco, J. C., Feb 1 2019, In : Seizure. 65, p. 106-108 3 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

A loss-of-function HCN4 mutation associated with familial benign myoclonic epilepsy in infancy causes increased neuronal excitability

Campostrini, G., Difrancesco, J. C., Castellotti, B., Milanesi, R., Gnecchi-Ruscone, T., Bonzanni, M., Bucchi, A., Baruscotti, M., Ferrarese, C., Franceschetti, S., Canafoglia, L., Ragona, F., Freri, E., Labate, A., Gambardella, A., Costa, C., Gellera, C., Granata, T., Barbuti, A. & Difrancesco, D., Jan 1 2018, In : Frontiers in Molecular Neuroscience. 11, 269.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Epilepsy
Mutation
Neurons
Brain

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