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  • Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

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Neurogenetics
Research paper
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

Authors

  • Oriol Dols-Icardo Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  • Alberto García-Redondo ALS Unit, Department of Neurology, Instituto de Investigación Biomédica Hospital 12 de Octubre, Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Ricardo Rojas-García Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Daniel Borrego-Hernández ALS Unit, Department of Neurology, Instituto de Investigación Biomédica Hospital 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Ignacio Illán-Gala Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  • José Luís Muñoz-Blanco ALS Unit, Department of Neurology, Hospital Universitario Gregorio Marañón, Madrid, Spain PubMed articlesGoogle scholar articles
  • Alberto Rábano Department of Neuropathology and Tissue Bank, CIEN Foundation, Carlos III Institute of Health, Madrid, Spain PubMed articlesGoogle scholar articles
  • Laura Cervera-Carles Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  • Alexandra Juárez-Rufián ALS Unit, Department of Neurology, Instituto de Investigación Biomédica Hospital 12 de Octubre, Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Nino Spataro Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain Universitat Pompeu Fabra (UPF), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Noemí De Luna Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Lucía Galán ALS Unit, Department of Neurology, Hospital Clínico Universitario San Carlos, Madrid, Spain PubMed articlesGoogle scholar articles
  • Elena Cortes-Vicente Neuromuscular Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Juan Fortea Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  • Rafael Blesa Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  • Oriol Grau-Rivera Neurological Tissue Bank of the Biobanc-Hospital Clinic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain Alzheimer’s Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clinic, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Alberto Lleó Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  • Jesús Esteban-Pérez ALS Unit, Department of Neurology, Instituto de Investigación Biomédica Hospital 12 de Octubre, Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Ellen Gelpi Neurological Tissue Bank of the Biobanc-Hospital Clinic, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain PubMed articlesGoogle scholar articles
  • Jordi Clarimón Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain Center for Networked Biomedical Research into Neurodegenerative Diseases (CIBERNED), Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Jordi Clarimón, Department of Neurology, Research Institute. HSCSP, C/Sant Antoni Maria Claret, 167, Barcelona 08025, Spain; jclarimon{at}santpau.cat
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Citation

Dols-Icardo O, García-Redondo A, Rojas-García R, et al
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation
Journal of Neurology, Neurosurgery & Psychiatry 2018;89:162-168.

Publication history

  • Received July 6, 2017
  • Revised August 11, 2017
  • Accepted August 23, 2017
  • First published September 9, 2017.
Online issue publication 
February 19, 2019

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