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Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P. Genis D, et al. Among authors: san nicolas h. Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31. Neurology. 2018. PMID: 30381368
A kindred with cerebellar ataxia and thermoanalgesia.
Genis D, Ferrer I, Solé JV, Corral J, Volpini V, San Nicolás H, Gich J, Ramió-Torrentà L, Ferrándiz M, Puig J, Márquez F. Genis D, et al. Among authors: san nicolas h. J Neurol Neurosurg Psychiatry. 2009 May;80(5):518-23. doi: 10.1136/jnnp.2008.151548. Epub 2008 Aug 18. J Neurol Neurosurg Psychiatry. 2009. PMID: 18710877
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. Serrano-Munuera C, et al. Among authors: san nicolas h. JAMA Neurol. 2013 Jun;70(6):764-71. doi: 10.1001/jamaneurol.2013.2311. JAMA Neurol. 2013. PMID: 23700170