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Assessing the role of TUBA4A gene in frontotemporal degeneration.
Dols-Icardo, Oriol; Iborra, Oriol; Valdivia, Jessica; Pastor, Pau; Ruiz, Agustín; López de Munain, Adolfo; Sánchez-Valle, Raquel; Álvarez, Victoria; Sánchez-Juan, Pascual; Lleó, Alberto; Fortea, Juan; Blesa, Rafael; Cardona, Fernando; Baquero, Miquel; Alonso, María Dolores; Ortega-Cubero, Sara; Pastor, María A; Razquin, Cristina; Boada, Mercè; Hernández, Isabel; Gorostidi, Ana; Moreno, Fermín; Zulaika, Miren; Lladó, Albert; Coto, Eliecer; Combarros, Onofre; Pérez-Tur, Jordi; Clarimón, Jordi.
Afiliação
  • Dols-Icardo O; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
  • Iborra O; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Valdivia J; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain.
  • Pastor P; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Memory and Movement Disorders Units, Department of Neurology, University Hospital Mútua de Terrassa, University of Barcelona School of Medicine, Barcelona, Spain; Neurogenetics Laboratory, Division of
  • Ruiz A; Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
  • López de Munain A; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Contry EHU-UPV, San Sebastián, Spain.
  • Sánchez-Valle R; Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer, Barcelona, Spain.
  • Álvarez V; Genetics Laboratory, AGC Medicine Laboratory, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Sánchez-Juan P; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neurology Department, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Santander, Spain.
  • Lleó A; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
  • Fortea J; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
  • Blesa R; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
  • Cardona F; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain; Neurology and Molecular Genetics Mixed Investigation Unit, Instituto de Investigación Sanitaria La Fe, València, Spai
  • Baquero M; Neurology and Molecular Genetics Mixed Investigation Unit, Instituto de Investigación Sanitaria La Fe, València, Spain; Neurology Department, La Fe University and Polytechnical Hospital, València, Spain.
  • Alonso MD; Neurology Department, Hospital Clínic Universitari, València, Spain.
  • Ortega-Cubero S; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra School of Medicine, Pamplona, Spain.
  • Pastor MA; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, Universi
  • Razquin C; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra School of Medicine, Pamplona, Spain.
  • Boada M; Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
  • Hernández I; Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
  • Gorostidi A; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Contry EHU-UPV, San Sebastián, Spain.
  • Moreno F; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Contry EHU-UPV, San Sebastián, Spain.
  • Zulaika M; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Contry EHU-UPV, San Sebastián, Spain.
  • Lladó A; Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer, Barcelona, Spain.
  • Coto E; Genetics Laboratory, AGC Medicine Laboratory, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Combarros O; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neurology Department, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Santander, Spain.
  • Pérez-Tur J; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain; Neurology and Molecular Genetics Mixed Investigation Unit, Instituto de Investigación Sanitaria La Fe, València, Spai
  • Clarimón J; Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain. Electronic address: jclarimon@sa
Neurobiol Aging ; 38: 215.e13-215.e14, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26675813
ABSTRACT
The tubulin alpha 4a (TUBA4A) gene has been recently associated with amyotrophic lateral sclerosis. Interestingly, some of the mutation carriers were also diagnosed with frontotemporal degeneration (FTD) or mild cognitive impairment. With the aim to investigate the role of TUBA4A in FTD, we screened TUBA4A in a series of 814 FTD patients from Spain. Our data did not disclose any nonsense or missense variant in the cohort, thus suggesting that TUBA4A mutations are not associated with FTD.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Demência Frontotemporal / Estudos de Associação Genética / Mutação 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 Revista: Neurobiol Aging Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Demência Frontotemporal / Estudos de Associação Genética / Mutação 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 Revista: Neurobiol Aging Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Espanha