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Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
Malekkou, Anna; Samarani, Maura; Drousiotou, Anthi; Votsi, Christina; Sonnino, Sandro; Pantzaris, Marios; Chiricozzi, Elena; Zamba-Papanicolaou, Eleni; Aureli, Massimo; Loberto, Nicoletta; Christodoulou, Kyproula.
Afiliação
  • Malekkou A; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. annama@cing.ac.cy.
  • Samarani M; Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. annama@cing.ac.cy.
  • Drousiotou A; Department of Medical Biotechnology and Translational Medicine, University of Milano, 20122 Milano, Italy. maura.samarani@unimi.it.
  • Votsi C; Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. anthidr@cing.ac.cy.
  • Sonnino S; Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. anthidr@cing.ac.cy.
  • Pantzaris M; Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. votsi@cing.ac.cy.
  • Chiricozzi E; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. votsi@cing.ac.cy.
  • Zamba-Papanicolaou E; Department of Medical Biotechnology and Translational Medicine, University of Milano, 20122 Milano, Italy. sandro.sonnino@unimi.it.
  • Aureli M; Cyprus School of Molecular Medicine, Nicosia 1683, Cyprus. pantzari@cing.ac.cy.
  • Loberto N; Neurology Clinic C, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. pantzari@cing.ac.cy.
  • Christodoulou K; Department of Medical Biotechnology and Translational Medicine, University of Milano, 20122 Milano, Italy. elena.chiricozzi@unimi.it.
Int J Mol Sci ; 19(10)2018 Oct 10.
Article em En | MEDLINE | ID: mdl-30308956
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos / Atrofia Óptica / Beta-Glucosidase / Mutação de Sentido Incorreto / Ataxias Espinocerebelares / Deficiência Intelectual / Espasticidade Muscular Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Chipre
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfócitos / Atrofia Óptica / Beta-Glucosidase / Mutação de Sentido Incorreto / Ataxias Espinocerebelares / Deficiência Intelectual / Espasticidade Muscular Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Chipre