Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans

Autor: Ortega-Cubero, S, Lorenzo-Betancor, O, Lorenzo, E, Alonso, E, Coria, F, Pastor, MA, Fernandez-Santiago, R, Marti, MJ, Ezquerra, M, Valldeoriola, F, Compta, Y, Tolosa, E, Agundez, JA, Jimenez-Jimenez, FJ, Gironell, A, Clarimon, J, de Castro, P, Garcia-Martin, E, Alonso-Navarro, H, Pastor, P

Publikováno v: NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent moveme

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Exome-wide rare variant analysis in familial essential tremor.

Autor: Diez-Fairen M; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain., Houle G; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada., Ortega-Cubero S; Department of Neurology and Neurosurgery, Hospital Universitario de Burgos, Burgos, Spain., Bandres-Ciga S; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Instituto de Investigación Biosanitaria de Granada (ibs. GRANADA), Granada, Spain., Alvarez I; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain., Carcel M; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain., Ibañez L; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Fernandez MV; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Budde JP; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Trotta JR; Centre Nacional d'Anàlisis Genòmic (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain & Universitat Pompeu Fabra (UPF), Barcelona, Spain., Tonda R; Centre Nacional d'Anàlisis Genòmic (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain & Universitat Pompeu Fabra (UPF), Barcelona, Spain., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Seattle Children's Hospital, Seattle, WA, 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Aguilar M; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain., Tartari JP; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain., Gironell A; Movement Disorders Unit, Neurology Department, Hospital de Sant Pau and Sant Pau Biomedical Research Institute, Barcelona, 08026, Spain., García-Martín E; University Institute of Molecular Pathology Biomarkers, UNEx. ARADyAL Instituto de Salud Carlos III, Cáceres, Spain., Agundez JA; University Institute of Molecular Pathology Biomarkers, UNEx. ARADyAL Instituto de Salud Carlos III, Cáceres, Spain., Alonso-Navarro H; Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain., Jimenez-Jimenez FJ; Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain., Fernandez M; María de Maeztu Unit of Excellence, Institute of Neurosciences, University of Barcelona, MDM-2017-0729, Ministry of Science, Innovation and Universities, Spain; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain., Valldeoriola F; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic de Barcelona, Barcelona, Spain., Marti MJ; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic de Barcelona, Barcelona, Spain., Tolosa E; Parkinson's Disease & Movement Disorders Unit, Department of Neurology, Hospital Clínic, IDIBAPS, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Hospital Clínic de Barcelona, Barcelona, Spain., Coria F; Clinic for Nervous Disorders, Service of Neurology, Son Espases University Hospital, Palma de Mallorca, Spain., Pastor MA; Department of Neurology, Clínica Universidad de Navarra, Pamplona, Spain., Vilariño-Güell C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Rajput A; Saskatchewan Movement Disorders Program, University of Saskatchewan/Saskatchewan Health Authority, Saskatoon, Saskatchewan, Canada., Dion PA; Department of Human Genetics, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, H3A 2B4, Quebec, Canada., Cruchaga C; NeuroGenomics and Informatics, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., Rouleau GA; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, H3A 2B4, Quebec, Canada., Pastor P; Fundació Docència i Recerca MútuaTerrassa, Movement Disorders Unit, Department of Neurology, University Hospital Mútua Terrassa, Terrassa, Barcelona, Spain. Electronic address: pastorpau@gmail.com.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2021 Jan; Vol. 82, pp. 109-116. Date of Electronic Publication: 2020 Nov 24.

Genomic and pharmacogenomic biomarkers of Parkinson's disease.

Autor: Alonso-Navarro H, Jimenez-Jimenez FJ, Garcia-Martin E, Agundez JA; C/ Marroquina 14, 3º B, E- 28030 Madrid; Spain. fjavier.jimenez@salud.madrid.org.

Publikováno v: Current drug metabolism [Curr Drug Metab] 2014 Feb; Vol. 15 (2), pp. 129-81.

Gene variants and haplotypes modifying transcription factor binding sites in the human cyclooxygenase 1 and 2 (PTGS1 and PTGS2) genes.

Autor: Agundez JA, Gonzalez-Alvarez DL, Vega-Rodriguez MA, Botello E, Garcia-Martin E; Department of Pharmacology, University of Extremadura, Avda de la Universidad s/n, 10071, Caceres, Spain. jagundez@unex.es.

Publikováno v: Current drug metabolism [Curr Drug Metab] 2014 Feb; Vol. 15 (2), pp. 182-95.