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Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas, Maria I; Marcé-Grau, Anna; Martí-Sánchez, Laura; Mellid, Sara; Baide-Mairena, Heidy; Correa-Vela, Marta; Cazurro, Anna; Rodríguez, Carla; Toledo, Laura; Fernández-Ramos, Joaquín Alejandro; Pons, Roser; Aguilera-Albesa, Sergio; Martí, Maria José; Eiris, Jesús; Iglesias, Gema; De Fabregues, Oriol; Maqueda, Elena; Garriz-Luis, Maite; Madruga, Marcos; Espinós, Carmen; Macaya, Alfons; Cabrera, José Carlos; Pérez-Dueñas, Belén.
Afiliação
  • Vanegas MI; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Universitat de Barcelona, Barcelona, Spain.
  • Marcé-Grau A; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain.
  • Martí-Sánchez L; Universitat de Barcelona, Barcelona, Spain; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Mellid S; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Baide-Mairena H; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain; Paediatric Department, Hospital General de Granollers, Granollers, Spain.
  • Correa-Vela M; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Cazurro A; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Rodríguez C; Paediatric Neurology Department, Hospital Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Toledo L; Paediatric Neurology Department, Hospital Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Fernández-Ramos JA; Paediatric Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain.
  • Pons R; Paediatric Neurology Unit, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Hospital Agia Sofia, Athens, Greece.
  • Aguilera-Albesa S; Paediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain.
  • Martí MJ; Parkinson's Disease & Movement Disorders Unit, Neurology Department, Hospital Clínic de Barcelona/IDIBAPS/University of Barcelona, Institut de Neurociències, Barcelona, Spain.
  • Eiris J; Paediatric Neurology Department, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
  • Iglesias G; Pediatric Neurology Department, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, Spain.
  • De Fabregues O; Movement Disorders Unit, Department of Neurology Vall d'Hebron University Hospital, Neurodegenerative Diseases Group Barcelona, Spain.
  • Maqueda E; Paediatric Neurology Department, Hospital Parc Taulí, Sabadell, Spain.
  • Garriz-Luis M; Paediatric Neurology Unit, Clínica Universidad de Navarra, Pamplona, Spain.
  • Madruga M; Paediatric Neurology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Espinós C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Macaya A; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain; Paediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain.
  • Cabrera JC; Paediatric Neurology Department, Hospital Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain.
  • Pérez-Dueñas B; Paediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Paediatric Neurology Department, Hospital Vall d'Hebron, Barcelona, Spain. Electronic address: belen.perez@vhir.org.
Parkinsonism Relat Disord ; 80: 165-174, 2020 11.
Article em En | MEDLINE | ID: mdl-33022436
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Sarcoglicanas / Destreza Motora Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Sarcoglicanas / Destreza Motora Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article