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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. Synofzik M, et al. Among authors: sarto e. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. Brain. 2016. PMID: 27086870 Free PMC article.
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C. Pensato V, et al. Among authors: sarto e. Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15. Brain. 2014. PMID: 24833714
Somatosensory conduction pathway in spastic paraplegia type 5.
Vanotti A, Nanetti L, Rossi Sebastiano D, Visani E, Duran D, Di Bella D, Sarto E, Caccia C, Leoni V, Taroni F, Mariotti C. Vanotti A, et al. Among authors: sarto e. J Clin Neurol. 2014 Oct;10(4):373-4. doi: 10.3988/jcn.2014.10.4.373. Epub 2014 Oct 6. J Clin Neurol. 2014. PMID: 25324891 Free PMC article. No abstract available.
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.
Rossi J, Cavallieri F, Giovannini G, Budriesi C, Gessani A, Carecchio M, Di Bella D, Sarto E, Mandrioli J, Contardi S, Meletti S. Rossi J, et al. Among authors: sarto e. Neurogenetics. 2019 Aug;20(3):161-164. doi: 10.1007/s10048-019-00580-7. Epub 2019 Jun 13. Neurogenetics. 2019. PMID: 31190316
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D, Magri S, Benzoni C, Farina L, Maccagnano C, Sarto E, Moscatelli M, Baratta S, Ciano C, Piacentini SHMJ, Draghi L, Mauro E, Pareyson D, Gellera C, Taroni F, Salsano E. Di Bella D, et al. Among authors: sarto e. Eur J Neurol. 2021 Mar;28(3):934-944. doi: 10.1111/ene.14646. Epub 2020 Dec 3. Eur J Neurol. 2021. PMID: 33190326
16 results