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Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
Longo, Fabiana; De Ritis, Daniele; Miluzio, Annarita; Fraticelli, Davide; Baets, Jonathan; Scarlato, Marina; Santorelli, Filippo M; Biffo, Stefano; Maltecca, Francesca.
Afiliação
  • Longo F; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • De Ritis D; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Miluzio A; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Fraticelli D; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Baets J; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Scarlato M; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Santorelli FM; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Biffo S; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
  • Maltecca F; From the Mitochondrial Dysfunctions in Neurodegeneration Unit (F.L., D.D.R., D.F., F.M.) and Department of Neurology (M.S.), Ospedale San Raffaele, Milan, Italy; Istituto Nazionale di Genetica Molecolare (A.M., S.B.), INGM, "Romeo ed Enrica Invernizzi," Milan, Italy; Laboratory of Neuromuscular Path
Neurology ; 97(23): e2315-e2327, 2021 12 07.
Article em En | MEDLINE | ID: mdl-34649874
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Proteínas de Choque Térmico Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Proteínas de Choque Térmico Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article