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Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti, Amaia; Larasati, Yonika A; da Silva Cardoso, Juliana; Solis, Gonzalo P; Koval, Alexey; Cazurro-Gutiérrez, Ana; Ortigoza-Escobar, Juan Dario; Miranda, Maria Concepción; De la Casa-Fages, Beatriz; Moreno-Galdó, Antonio; Tizzano, Eduardo F; Gómez-Andrés, David; Verdura, Edgard; Katanaev, Vladimir L; Pérez-Dueñas, Belén.
Affiliation
  • Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.
  • Larasati YA; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.
  • da Silva Cardoso J; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.
  • Solis GP; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Koval A; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Paris, France.
  • Cazurro-Gutiérrez A; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
  • Ortigoza-Escobar JD; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.
  • Miranda MC; Serviço de Pediatria do Centro Materno infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
  • De la Casa-Fages B; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
  • Moreno-Galdó A; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
  • Tizzano EF; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.
  • Gómez-Andrés D; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Verdura E; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
  • Katanaev VL; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Pérez-Dueñas B; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.
Mov Disord ; 2024 Jun 16.
Article in En | MEDLINE | ID: mdl-38881224
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2024 Type: Article Affiliation country: Spain
Fulltext
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XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2024 Type: Article Affiliation country: Spain