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SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.
Sánchez, Elena; Bergareche, Alberto; Krebs, Catharine E; Gorostidi, Ana; Makarov, Vladimir; Ruiz-Martinez, Javier; Chorny, Alejo; Lopez de Munain, Adolfo; Marti-Masso, Jose Felix; Paisán-Ruiz, Coro.
Afiliação
  • Sánchez E; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Bergareche A; Biodonostia Research Institute, University of the Basque Country, San Sebastián, Gipuzkoa, Spain Department of Neurology, Hospital Universitario Donostia, San Sebastián, Guipuzcoa, Spain Centro de investigación biomédica en Red para enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Krebs CE; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Gorostidi A; Biodonostia Research Institute, University of the Basque Country, San Sebastián, Gipuzkoa, Spain Department of Neurology, Hospital Universitario Donostia, San Sebastián, Guipuzcoa, Spain Centro de investigación biomédica en Red para enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Makarov V; Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
  • Ruiz-Martinez J; Biodonostia Research Institute, University of the Basque Country, San Sebastián, Gipuzkoa, Spain Department of Neurology, Hospital Universitario Donostia, San Sebastián, Guipuzcoa, Spain Centro de investigación biomédica en Red para enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Chorny A; Department of Medicine, The Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Lopez de Munain A; Biodonostia Research Institute, University of the Basque Country, San Sebastián, Gipuzkoa, Spain Department of Neurology, Hospital Universitario Donostia, San Sebastián, Guipuzcoa, Spain Centro de investigación biomédica en Red para enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain Departmen
  • Marti-Masso JF; Biodonostia Research Institute, University of the Basque Country, San Sebastián, Gipuzkoa, Spain Department of Neurology, Hospital Universitario Donostia, San Sebastián, Guipuzcoa, Spain Centro de investigación biomédica en Red para enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain Departmen
  • Paisán-Ruiz C; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA Departments of Psychiatry and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at
ASN Neuro ; 7(4)2015.
Article em En | MEDLINE | ID: mdl-26297037
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação para Cima / Saúde da Família / Receptores de Fator de Crescimento Neural / Tremor Essencial / Proteínas Adaptadoras de Transporte Vesicular / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação para Cima / Saúde da Família / Receptores de Fator de Crescimento Neural / Tremor Essencial / Proteínas Adaptadoras de Transporte Vesicular / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2015 Tipo de documento: Article