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A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.
Delgado-Alvarado, Manuel; Matilla-Dueñas, Antoni; Altadill-Bermejo, Antonio; Setién, Sonia; Misiego-Peral, Mercedes; Sánchez-de la Torre, José Ramón; Corral-Juan, Marc; Riancho, Javier.
Affiliation
  • Delgado-Alvarado M; Service of Neurology, Hospital Sierrallana-IDIVAL, Torrelavega, Spain. manueldelgadoalv@gmail.com.
  • Matilla-Dueñas A; Biomedical Research Networking Center for Mental Health (CIBERSAM), Madrid, Spain. manueldelgadoalv@gmail.com.
  • Altadill-Bermejo A; Psychiatry Research Area, IDIVAL, University Hospital Marqués de Valdecilla, Santander, Spain. manueldelgadoalv@gmail.com.
  • Setién S; Functional and Translational Neurogenetics Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias-IGTP, Can Ruti Campus, Badalona, Barcelona, Spain.
  • Misiego-Peral M; Family Medicine Service, Hospital Sierrallana-IDIVAL, Torrelavega, Spain.
  • Sánchez-de la Torre JR; Service of Neurology, Hospital Sierrallana-IDIVAL, Torrelavega, Spain.
  • Corral-Juan M; Service of Neurology, Hospital Sierrallana-IDIVAL, Torrelavega, Spain.
  • Riancho J; Service of Neurology, Hospital Sierrallana-IDIVAL, Torrelavega, Spain.
Neurol Sci ; 41(12): 3779-3781, 2020 Dec.
Article in En | MEDLINE | ID: mdl-32955639
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonic Disorders / Myoclonus Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: Spain
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonic Disorders / Myoclonus Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: Spain