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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Gómez-Garre+P%22">Gómez-Garre P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jesús+S%22">Jesús S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Periñán+MT%22">Periñán MT</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Adarmes+A%22">Adarmes A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alonso-Canovas+A%22">Alonso-Canovas A</searchLink>; Movement Disorders Unit, Neurology Department, Ramón y Cajal Hospital, IRYCIS, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Ollero+A%22">Blanco-Ollero A</searchLink>; Neurology Department, Juan Ramón Jiménez Hospital, Huelva, Spain.<br /><searchLink fieldCode="AU" term="%22Buiza-Rueda+D%22">Buiza-Rueda D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Carrillo+F%22">Carrillo F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Catalán-Alonso+MJ%22">Catalán-Alonso MJ</searchLink>; Movement Disorders Unit, Neurology Department, La Fe Hospital, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Del+Val+J%22">Del Val J</searchLink>; Movement Disorders Unit, Neurology Department, San Carlos Clinical Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Escamilla-Sevilla+F%22">Escamilla-Sevilla F</searchLink>; Movement Disorders Unit, Neurology Department, Virgen de las Nieves University Hospital, Granada, Spain.<br /><searchLink fieldCode="AU" term="%22Espinosa-Rosso+R%22">Espinosa-Rosso R</searchLink>; Neurology Department, Puerta del Mar University Hospital, Cádiz, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Moreno+MC%22">Fernández-Moreno MC</searchLink>; Neurology Department, Virgen de Valme Hospital, Seville, Spain.<br /><searchLink fieldCode="AU" term="%22García-Moreno+JM%22">García-Moreno JM</searchLink>; Movement Disorders Unit, Neurology Department, Jiménez Díaz Foundation, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22García-Ruiz+PJ%22">García-Ruiz PJ</searchLink>; Movement Disorders Unit, Neurology Department, San Carlos Clinical Hospital, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Giacometti-Silveira+S%22">Giacometti-Silveira S</searchLink>; Neurology Department, Virgen Macarena University Hospital, Seville, Spain.<br /><searchLink fieldCode="AU" term="%22Gutiérrez-García+J%22">Gutiérrez-García J</searchLink>; Neurology Department, Carlos Haya Hospital, Málaga, Spain.<br /><searchLink fieldCode="AU" term="%22López-Valdés+E%22">López-Valdés E</searchLink>; Movement Disorders Unit, Neurology Department, La Fe Hospital, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Macías-García+D%22">Macías-García D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Martínez-Castrillo+JC%22">Martínez-Castrillo JC</searchLink>; Movement Disorders Unit, Neurology Department, Ramón y Cajal Hospital, IRYCIS, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Torres+I%22">Martínez-Torres I</searchLink>; Neurology Department, San Cecilio University Hospital, Granada, Spain.<br /><searchLink fieldCode="AU" term="%22Medialdea-Natera+MP%22">Medialdea-Natera MP</searchLink>; Movement Disorders Unit, Neurology Department, Virgen de la Victoria University Hospital, Málaga, Spain.<br /><searchLink fieldCode="AU" term="%22Mínguez-Castellanos+A%22">Mínguez-Castellanos A</searchLink>; Movement Disorders Unit, Neurology Department, Virgen de las Nieves University Hospital, Granada, Spain.<br /><searchLink fieldCode="AU" term="%22Moya+MÁ%22">Moya MÁ</searchLink>; Neurology Department, Puerta del Mar University Hospital, Cádiz, Spain.<br /><searchLink fieldCode="AU" term="%22Ochoa-Sepulveda+JJ%22">Ochoa-Sepulveda JJ</searchLink>; Neurology Department, Reina Sofía University Hospital, Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22Ojea+T%22">Ojea T</searchLink>; Neurology Department, Virgen Macarena University Hospital, Seville, Spain.<br /><searchLink fieldCode="AU" term="%22Rodríguez+N%22">Rodríguez N</searchLink>; Neurology Department, Puerto Real University Hospital, Cádiz, Spain.<br /><searchLink fieldCode="AU" term="%22Sillero-Sánchez+M%22">Sillero-Sánchez M</searchLink>; Neurology Department, Puerto Real University Hospital, Cádiz, Spain.<br /><searchLink fieldCode="AU" term="%22Tejera-Parrado+C%22">Tejera-Parrado C</searchLink>; Movement Disorders Unit, Clinical Neurology and Neurophysiology Department, Institute of Biomedicine of Seville, Virgen del Rocío University Hospital/CSIC/University of Seville, Seville, Spain.<br /><searchLink fieldCode="AU" term="%22Mir+P%22">Mir P</searchLink>; 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.
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