Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.

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

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

Afiliação

Cerami C; Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy. Electronic address: cerami.chiara@hsr.it.
Tarantino P; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
Cupidi C; Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
Annesi G; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
Lo Re V; Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
Gagliardi M; 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.
Piccoli T; Department of Experimental Biomedicine and Clinical Neurosciences (BioNeC), University of Palermo, Palermo, Italy.
Quattrone A; 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.

J Neurol Sci ; 354(1-2): 112-3, 2015 Jul 15.

Article em En | MEDLINE | ID: mdl-25982182

Assuntos

Mutação da Fase de Leitura/genética; Fatores de Troca do Nucleotídeo Guanina/genética; Degenerações Espinocerebelares/diagnóstico; Degenerações Espinocerebelares/genética; Adulto; Feminino; Humanos; Masculino; Linhagem

Palavras-chave

Autosomal recessive cerebellar ataxias; Cerebellar atrophy; Early-onset cataracts; MarinescoSjögren Syndrome; Mental retardation; SIL1 gene

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Mutação da Fase de Leitura / Fatores de Troca do Nucleotídeo Guanina Limite: Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Ano de publicação: 2015 Tipo de documento: Article

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