title: Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.
authors.affiliation: Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy. Electronic address: cerami.chiara@hsr.it.
authors.forename: Chiara
authors.initials: C
authors.lastname: Cerami
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.affiliation: Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Cupidi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
authors.forename: Vincenzina
authors.initials: V
authors.lastname: Lo Re
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Aurgi Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Gagliardi
authors.affiliation: Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
authors.forename: Tommaso
authors.initials: T
authors.lastname: Piccoli
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Aurgi Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human
keywords: Autosomal recessive cerebellar ataxias; Cerebellar atrophy; Early-onset cataracts; Marinesco–Sjögren Syndrome; Mental retardation; SIL1 gene