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Did you mean paola saverio (8 results)?
New developments in Charcot-Marie-Tooth neuropathy and related diseases.
Pareyson D, Saveri P, Pisciotta C. Pareyson D, et al. Among authors: saveri p. Curr Opin Neurol. 2017 Oct;30(5):471-480. doi: 10.1097/WCO.0000000000000474. Curr Opin Neurol. 2017. PMID: 28678038 Review.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. Juneja M, et al. Among authors: saveri p. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15. J Neurol Neurosurg Psychiatry. 2018. PMID: 29449460
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Pareyson D, et al. Among authors: saveri p. Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Neurosci Lett. 2015. PMID: 25847151 Review.
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
Fratta P, Ornaghi F, Dati G, Zambroni D, Saveri P, Belin S, D'Adamo P, Shy M, Quattrini A, Laura Feltri M, Wrabetz L. Fratta P, et al. Among authors: saveri p. Hum Mol Genet. 2019 Jan 1;28(1):124-132. doi: 10.1093/hmg/ddy336. Hum Mol Genet. 2019. PMID: 30239779 Free PMC article.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: saveri p. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058
Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation.
Cazzato D, Dalla Bella E, Saveri P, Taroni F, Marucci G, Lauria G. Cazzato D, et al. Among authors: saveri p. Neurol Sci. 2019 Jun;40(6):1267-1269. doi: 10.1007/s10072-019-3716-z. Epub 2019 Jan 26. Neurol Sci. 2019. PMID: 30685801
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Tomaselli PJ, et al. Among authors: saveri p. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10. Neurology. 2017. PMID: 28283593 Free PMC article.
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Piscosquito G, Magri S, Saveri P, Milani M, Ciano C, Farina L, Taroni F, Pareyson D. Piscosquito G, et al. Among authors: saveri p. J Peripher Nerv Syst. 2017 Mar;22(1):47-50. doi: 10.1111/jns.12201. J Peripher Nerv Syst. 2017. PMID: 27982524
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D. Piscosquito G, et al. Among authors: saveri p. J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. J Peripher Nerv Syst. 2016. PMID: 27231023 Free PMC article.
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: saveri p. Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
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