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ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M. Panza E, et al. Among authors: salviati l. Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. Brain. 2016. PMID: 26297558 No abstract available.
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML. Bertolin C, et al. Among authors: salviati l. J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5. J Neurol Sci. 2010. PMID: 20447653
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: salviati l. J Neurol. 2021 Sep;268(9):3381-3389. doi: 10.1007/s00415-021-10509-6. Epub 2021 Mar 11. J Neurol. 2021. PMID: 33704555
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Weterman MA, et al. Among authors: salviati l. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. Among authors: salviati l. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
Coenzyme Q deficiency in muscle.
Trevisson E, DiMauro S, Navas P, Salviati L. Trevisson E, et al. Among authors: salviati l. Curr Opin Neurol. 2011 Oct;24(5):449-56. doi: 10.1097/WCO.0b013e32834ab528. Curr Opin Neurol. 2011. PMID: 21844807 Review.
199 results