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 journalArticle

Original languageEnglish
Article number13755
Pages (from-to)112-113
Number of pages2
JournalJournal of the Neurological Sciences
Volume354
Issue number1-2
DOIs
Publication statusPublished - 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

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