Paola Saveri

Fondazione IRCCS Istituto Neurologico "C. Besta"

Emailpaola.saveri@istituto-besta.it

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22 Article
1 Comment/debate

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)
Inherited Neuropathy Consortium, Jun 1 2020, In: Nature Genetics. 52, 6, p. 640 1 p.
Research output: Contribution to journal › Comment/debate › peer-review

Open Access
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., Feely, S. M. E., Athanasiou-Fragkouli, A., Haridy, N. A., Isasi, R., Khan, A., Laurà, M., Magri, S., Pipis, M. & 30 others, Pisciotta, C., Powell, E., Rossor, A. M., Saveri, P., Sowden, J. E., Tozza, S., Vandrovcova, J., Dallman, J., Grignani, E., Marchioni, E., Scherer, S. S., Tang, B., Lin, Z., Al-Ajmi, A., Schüle, R., Synofzik, M., Maisonobe, T., Stojkovic, T., Auer-Grumbach, M., Abdelhamed, M. A., Hamed, S. A., Zhang, R., Manganelli, F., Santoro, L., Taroni, F., Pareyson, D., Houlden, H., Herrmann, D. N., Reilly, M. M. & Shy, M. E., May 2020, In: Nature Genetics. 52, 5, p. 473-481 9 p.
Research output: Contribution to journal › Article › peer-review
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., Feely, S. M. E., Athanasiou-Fragkouli, A., Haridy, N. A., Rodriguez, A., Bacha, A., Kosikowski, A., Wood, B., McCray, B. & 75 others, Blume, B., Siskind, C., Sumner, C., Calabrese, D., Walk, D., Vujovic, D., Park, E., Muntoni, F., Donlevy, G., Acsadi, G., Day, J., Burns, J., Li, J., Krajewski, K., Eichinger, K., Cornett, K., Mullen, K., Laura, P. Q., Gutmann, L., Barrett, M., Saporta, M., Skorupinska, M., Grant, N., Bray, P., Seyedsadjadi, R., Zuccarino, R., Finkel, R., Lewis, R., Yum, S., Hilbert, S., Thomas, S., Behrens-Spraggins, S., Jones, T., Lloyd, T., Grider, T., Estilow, T., Fridman, V., Isasi, R., Khan, A., Laurà, M., Magri, S., Pipis, M., Pisciotta, C., Powell, E., Rossor, A. M., Saveri, P., Sowden, J. E., Tozza, S., Vandrovcova, J., Dallman, J., Grignani, E., Marchioni, E., Scherer, S. S., Tang, B., Lin, Z., Al-Ajmi, A., Schüle, R., Synofzik, M., Maisonobe, T., Stojkovic, T., Auer-Grumbach, M., Abdelhamed, M. A., Hamed, S. A., Zhang, R., Manganelli, F., Santoro, L., Taroni, F., Pareyson, D., Houlden, H., Herrmann, D. N., Reilly, M. M., Shy, M. E., Zhai, R. G., Zuchner, S. & Consortium, I. N., 2020, In: Nature Genetics. 52, 5, p. 473-481 9 p.
Research output: Contribution to journal › Article › peer-review
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
Saveri, P., De Luca, M., Nisi, V., Pisciotta, C., Romano, R., Piscosquito, G., Reilly, M. M., Polke, J. M., Cavallaro, T., Fabrizi, G. M., Fossa, P., Cichero, E., Lombardi, R., Lauria, G., Magri, S., Taroni, F., Pareyson, D. & Bucci, C., Apr 21 2020, In: Cells. 9, 4, p. 1028
Research output: Contribution to journal › Article › peer-review

Open Access
Natural history of Charcot-Marie-Tooth disease type 2A: A large international multicentre study
Inherited Neuropathies Consortium-Rare Disease Clinical Research Network (INC-RDCRN), Dec 1 2020, In: Brain. 143, 12, p. 3589-3602 14 p.
Research output: Contribution to journal › Article › peer-review

Open Access

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

Natural history of Charcot-Marie-Tooth disease type 2A: A large international multicentre study