Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

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Title: Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Authors: Gómez-Garre P; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Jesús S; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Periñán MT; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Adarmes A; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Alonso-Canovas A; Movement Disorders Unit, Neurology Department, Ramón y Cajal Hospital, IRYCIS, Madrid, Spain., Blanco-Ollero A; Neurology Department, Juan Ramón Jiménez Hospital, Huelva, Spain., Buiza-Rueda D; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Carrillo F; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Catalán-Alonso MJ; Movement Disorders Unit, Neurology Department, La Fe Hospital, Valencia, Spain., Del Val J; Movement Disorders Unit, Neurology Department, San Carlos Clinical Hospital, Madrid, Spain., Escamilla-Sevilla F; Movement Disorders Unit, Neurology Department, Virgen de las Nieves University Hospital, Granada, Spain., Espinosa-Rosso R; Neurology Department, Puerta del Mar University Hospital, Cádiz, Spain., Fernández-Moreno MC; Neurology Department, Virgen de Valme Hospital, Seville, Spain., García-Moreno JM; Movement Disorders Unit, Neurology Department, Jiménez Díaz Foundation, Madrid, Spain., García-Ruiz PJ; Movement Disorders Unit, Neurology Department, San Carlos Clinical Hospital, Madrid, Spain., Giacometti-Silveira S; Neurology Department, Virgen Macarena University Hospital, Seville, Spain., Gutiérrez-García J; Neurology Department, Carlos Haya Hospital, Málaga, Spain., López-Valdés E; Movement Disorders Unit, Neurology Department, La Fe Hospital, Valencia, Spain., Macías-García D; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain., Martínez-Castrillo JC; Movement Disorders Unit, Neurology Department, Ramón y Cajal Hospital, IRYCIS, Madrid, Spain., Martínez-Torres I; Neurology Department, San Cecilio University Hospital, Granada, Spain., Medialdea-Natera MP; Movement Disorders Unit, Neurology Department, Virgen de la Victoria University Hospital, Málaga, Spain., Mínguez-Castellanos A; Movement Disorders Unit, Neurology Department, Virgen de las Nieves University Hospital, Granada, Spain., Moya MÁ; Neurology Department, Puerta del Mar University Hospital, Cádiz, Spain., Ochoa-Sepulveda JJ; Neurology Department, Reina Sofía University Hospital, Córdoba, Spain., Ojea T; Neurology Department, Virgen Macarena University Hospital, Seville, Spain., Rodríguez N; Neurology Department, Puerto Real University Hospital, Cádiz, Spain., Sillero-Sánchez M; Neurology Department, Puerto Real University Hospital, Cádiz, Spain., Tejera-Parrado C; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain., Mir P; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED, Madrid, Spain.
Source: European journal of neurology [Eur J Neurol] 2021 Apr; Vol. 28 (4), pp. 1188-1197. Date of Electronic Publication: 2020 Dec 06.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-1331
DOI:10.1111/ene.14638