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 journalArticlepeer-review

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

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