Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

Chiara Cerami; Patrizia Tarantino; Chiara Cupidi; Grazia Annesi; Vincenzina Lo Re; Monica Gagliardi; Tommaso Piccoli; Aldo Quattrone

doi:10.1016/j.jns.2015.04.026

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

Chiara Cerami, Patrizia Tarantino, Chiara Cupidi, Grazia Annesi, Vincenzina Lo Re, Monica Gagliardi, Tommaso Piccoli, Aldo Quattrone

Research output: Contribution to journal › Article

Original language	English
Article number	13755
Pages (from-to)	112-113
Number of pages	2
Journal	Journal of the Neurological Sciences
Volume	354
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2015.04.026
Publication status	Published - Jul 15 2015

Keywords

Autosomal recessive cerebellar ataxias
Cerebellar atrophy
Early-onset cataracts
Marinesco-Sjögren Syndrome
Mental retardation
SIL1 gene

ASJC Scopus subject areas

Clinical Neurology
Neurology

Access to Document

10.1016/j.jns.2015.04.026

Cite this

Cerami, C., Tarantino, P., Cupidi, C., Annesi, G., Lo Re, V., Gagliardi, M., Piccoli, T., & Quattrone, A. (2015). Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation. Journal of the Neurological Sciences, 354(1-2), 112-113. [13755]. https://doi.org/10.1016/j.jns.2015.04.026

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title = "Marinesco-Sj{\"o}gren syndrome caused by a new SIL1 frameshift mutation",

keywords = "Autosomal recessive cerebellar ataxias, Cerebellar atrophy, Early-onset cataracts, Marinesco-Sj{\"o}gren Syndrome, Mental retardation, SIL1 gene",

author = "Chiara Cerami and Patrizia Tarantino and Chiara Cupidi and Grazia Annesi and {Lo Re}, Vincenzina and Monica Gagliardi and Tommaso Piccoli and Aldo Quattrone",

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AU - Cerami, Chiara

AU - Tarantino, Patrizia

AU - Cupidi, Chiara

AU - Annesi, Grazia

AU - Lo Re, Vincenzina

AU - Gagliardi, Monica

AU - Piccoli, Tommaso

AU - Quattrone, Aldo

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KW - Autosomal recessive cerebellar ataxias

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KW - Early-onset cataracts

KW - Marinesco-Sjögren Syndrome

KW - Mental retardation

KW - SIL1 gene

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