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Distal motor neuropathy associated with novel EMILIN1 mutation.
Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C. Iacomino M, et al. Among authors: marchese m. Neurobiol Dis. 2020 Apr;137:104757. doi: 10.1016/j.nbd.2020.104757. Epub 2020 Jan 21. Neurobiol Dis. 2020. PMID: 31978608 Free article.
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
D'Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. D'Amore A, et al. Among authors: marchese m. Ann Clin Transl Neurol. 2020 Apr;7(4):584-589. doi: 10.1002/acn3.51018. Epub 2020 Mar 25. Ann Clin Transl Neurol. 2020. PMID: 32216065 Free PMC article.
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Di Nottia M, Marchese M, Verrigni D, Mutti CD, Torraco A, Oliva R, Fernandez-Vizarra E, Morani F, Trani G, Rizza T, Ghezzi D, Ardissone A, Nesti C, Vasco G, Zeviani M, Minczuk M, Bertini E, Santorelli FM, Carrozzo R. Di Nottia M, et al. Among authors: marchese m. Neurobiol Dis. 2020 Jul;141:104880. doi: 10.1016/j.nbd.2020.104880. Epub 2020 Apr 25. Neurobiol Dis. 2020. PMID: 32344152 Free article.
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
Mero S, Salviati L, Leuzzi V, Rubegni A, Calderan C, Nardecchia F, Galatolo D, Desbats MA, Naef V, Gemignani F, Novelli M, Tessa A, Battini R, Santorelli FM, Marchese M. Mero S, et al. Among authors: marchese m. J Neurol. 2021 Sep;268(9):3381-3389. doi: 10.1007/s00415-021-10509-6. Epub 2021 Mar 11. J Neurol. 2021. PMID: 33704555
Dem-Aging: autophagy-related pathologies and the "two faces of dementia".
Gammaldi N, Doccini S, Bernardi S, Marchese M, Cecchini M, Ceravolo R, Rapposelli S, Ratto GM, Rocchiccioli S, Pezzini F, Santorelli FM; DEM-AGING Network. Gammaldi N, et al. Among authors: marchese m. Neurogenetics. 2024 Jan;25(1):39-46. doi: 10.1007/s10048-023-00739-3. Epub 2023 Dec 20. Neurogenetics. 2024. PMID: 38117343
Trehalose Treatment in Zebrafish Model of Lafora Disease.
Della Vecchia S, Ogi A, Licitra R, Abramo F, Nardi G, Mero S, Landi S, Battini R, Sicca F, Ratto GM, Santorelli FM, Marchese M. Della Vecchia S, et al. Among authors: marchese m. Int J Mol Sci. 2022 Jun 20;23(12):6874. doi: 10.3390/ijms23126874. Int J Mol Sci. 2022. PMID: 35743315 Free PMC article.
Glial Contributions to Lafora Disease: A Systematic Review.
Della Vecchia S, Marchese M, Santorelli FM. Della Vecchia S, et al. Among authors: marchese m. Biomedicines. 2022 Dec 1;10(12):3103. doi: 10.3390/biomedicines10123103. Biomedicines. 2022. PMID: 36551859 Free PMC article. Review.
Converging Role for REEP1/SPG31 in Oxidative Stress.
Naef V, Meschini MC, Tessa A, Morani F, Corsinovi D, Ogi A, Marchese M, Ori M, Santorelli FM, Doccini S. Naef V, et al. Among authors: marchese m. Int J Mol Sci. 2023 Feb 9;24(4):3527. doi: 10.3390/ijms24043527. Int J Mol Sci. 2023. PMID: 36834939 Free PMC article.
371 results