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Serena Cecchetti

  • 59 Citations
  • 4 h-Index
20172019
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  • 5 Similar Profiles
Mutation Medicine & Life Sciences
Integrases Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Kinesin Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Phospholipases Medicine & Life Sciences
Exons Medicine & Life Sciences

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Research Output 2017 2019

  • 59 Citations
  • 4 h-Index
  • 16 Article
  • 2 Review article

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journal › Article

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lißewski, C., Rezaei Adariani, S., Schanze, D., Brinkmann, J., Piard, J., Pantaleoni, F., Lepri, F. R., Goh, E. S-Y., Chong, K., Stieglitz, E., Meyer, J., Kuechler, A., Bramswig, N. C., Sacharow, S., Strullu, M. & 13 others, Vial, Y., Vignal, C., Kensah, G., Cuturilo, G., Kazemein Jasemi, N. S., Dvorsky, R., Monaghan, K. G., Vincent, L. M., Cavé, H., Verloes, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1223-1232 10 p.

Research output: Contribution to journal › Article

Noonan Syndrome
Mutation
Genes
Nucleotides
Exome

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Mehrjardi, M. Y. V., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., 2018, In : Neurology. 91, 4, p. E319-E330

Research output: Contribution to journal › Article

Cerebellum
Exome
Autophagy
Zebrafish
Mutation

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Muto, V., Flex, E., Kupchinsky, Z., Primiano, G., Galehdari, H., Dehghani, M., Cecchetti, S., Carpentieri, G., Rizza, T., Mazaheri, N., Sedaghat, A., Vahidi Mehrjardi, M. Y., Traversa, A., Di Nottia, M., Kousi, M. M., Jamshidi, Y., Ciolfi, A., Caputo, V., Malamiri, R. A., Pantaleoni, F. & 11 others, Martinelli, S., Jeffries, A. R., Zeighami, J., Sherafat, A., Di Giuda, D., Shariati, G. R., Carrozzo, R., Katsanis, N., Maroofian, R., Servidei, S. & Tartaglia, M., Jul 24 2018, In : Neurology. 91, 4, p. e319-e330

Research output: Contribution to journal › Article

Cerebellum
Exome
Autophagy
Zebrafish
Neurodegenerative Diseases

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

Stellacci, E., Steindl, K., Joset, P., Mercurio, L., Anselmi, M., Cecchetti, S., Gogoll, L., Zweier, M., Hackenberg, A., Bocchinfuso, G., Stella, L., Tartaglia, M. & Rauch, A., 2018, In : Human Mutation. 39, 7, p. 959-964 6 p.

Research output: Contribution to journal › Article

Zinc Fingers
Mutation
Megalencephaly
Amino Acid Substitution
Protein C