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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: mariotti c. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. Brain. 2016. PMID: 27086870 Free PMC article.
Cerebellar/spinocerebellar syndromes.
Mariotti C, Di Donato S. Mariotti C, et al. Neurol Sci. 2001 Nov;22 Suppl 2:S88-92. doi: 10.1007/s100720100042. Neurol Sci. 2001. PMID: 11794486 Review.
An overview of the patient with ataxia.
Mariotti C, Fancellu R, Di Donato S. Mariotti C, et al. J Neurol. 2005 May;252(5):511-8. doi: 10.1007/s00415-005-0814-z. J Neurol. 2005. PMID: 15895274 Review.
688 results