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

Autor: Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, José García-Ruiz P, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, Mir P

Publikováno v: EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.

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

Autor: 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.

Publikováno v: European journal of neurology [Eur J Neurol] 2021 Apr; Vol. 28 (4), pp. 1188-1197. Date of Electronic Publication: 2020 Dec 06.

BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis.

Autor: Gómez-Garre P; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain., Huertas-Fernández I, Cáceres-Redondo MT, Alonso-Canovas A, Bernal-Bernal I, Blanco-Ollero A, Bonilla-Toribio M, Burguera JA, Carballo M, Carrillo F, Catalán-Alonso MJ, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Caldentey J, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, Jesús S, López-Valdés E, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Méndez-Lucena C, Mínguez-Castellanos A, Moya M, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Vargas-González L, Mir P

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2014 Jul; Vol. 29 (8), pp. 1083-6. Date of Electronic Publication: 2014 Jun 12.

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Autor: Catalán Alonso MJ; Servicio de Neurologia, Hospital Nuestra Señora de Sónsoles, Avila., Santiago Guervos M, Rivera Franco M

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