Article
Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2014
Gómez-Garre Pilar, Huertas-Fernández Ismael, Cáceres-Redondo María Teresa, Alonso-Canovas Araceli, Bernal-Bernal Inmaculada, Blanco-Ollero Alberto, Bonilla-Toribio Marta, Burguera Juan Andrés, Carballo Manuel, Carrillo Fatima, José Catalán-Alonso M, Escamilla-Sevilla Francisco, Espinosa-Rosso Raul, Carmen Fernández-Moreno María, García-Caldentey Juan, García-Moreno José Manuel, Giacometti-Silveira Sandra, Gutiérrez-García Javier, Jesús-Maestre Silvia, López-Valdés Eva, Martínez-Castrillo Juan Carlos, Medialdea-Natera María Pilar, Méndez-Lucena Carolina, Mínguez-Castellanos Adolfo, Angel Moya Miguel, Ochoa-Sepulveda Juan José, Ojea Tomas, Rodríguez Nuria, Rubio-Agusti Ignacio, Sillero-Sánchez Miriam, Del Val Javier, Vargas-González Laura, Mir Pablo
Abstract excerpt
BACKGROUND: A recent genome-wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five...
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