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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

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Bibliographic Details
Title: Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Authors: Baviera-Muñoz R; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Carretero-Vilarroig L; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Vázquez-Costa JF; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Morata-Martínez C; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Campins-Romeu M; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Muelas N; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Sastre-Bataller I; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Martínez-Torres I; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Pérez-García J; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Sivera R; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Sevilla T; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Vilchez JJ; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Jaijo T; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Espinós C; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Millán JM; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Bataller L; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Aller E; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Source: Neurology. Genetics [Neurol Genet] 2022 Nov 14; Vol. 8 (6), pp. e200038. Date of Electronic Publication: 2022 Nov 14 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
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AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
– Name: Author
  Label: Authors
  Group: Au
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Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Millán+JM%22">Millán JM</searchLink>; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Bataller+L%22">Bataller L</searchLink>; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Aller+E%22">Aller E</searchLink>; Neuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101671068%22">Neurology. Genetics</searchLink> [Neurol Genet] 2022 Nov 14; Vol. 8 (6), pp. e200038. <i>Date of Electronic Publication: </i>2022 Nov 14 (<i>Print Publication: </i>2022).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Published+for+the+American+Academy+of+Neurology+by+Wolters+Kluwer%22">Published for the American Academy of Neurology by Wolters Kluwer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101671068 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2376-7839 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223767839%22">23767839 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1212/NXG.0000000000200038
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      – TitleFull: Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
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              Text: 2022 Nov 14
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