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PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA).
Afonso Ribeiro, Joana; Sousa, Mário; Alonso, Isabel; Moreira, Fradique; Pereira, Ricardo; Palavra, Filipe.
Affiliation
  • Afonso Ribeiro J; Neuropediatrics Department, Centre of Child Development, Hospital Pediátrico de Coimbra Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.
  • Sousa M; Edmond J. Safra Program in Parkinson Disease, Movement Disorder Clinic Toronto Western Hospital and the University of Toronto Department of Medicine Toronto Ontario Canada.
  • Alonso I; Department of Neurology, Center for Parkinson's Disease and Movement Disorders Inselspital, Bern University Hospital, University of Bern Bern Switzerland.
  • Moreira F; Genetyca-ICM, Instituto de Estudos Celulares e Moleculares Porto Portugal.
  • Pereira R; IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal.
  • Palavra F; Neurology Department, Hospitais da Universidade de Coimbra Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.
Mov Disord Clin Pract ; 9(5): 703-706, 2022 Jul.
Article in En | MEDLINE | ID: mdl-35844287
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Mov Disord Clin Pract Year: 2022 Document type: Article Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Mov Disord Clin Pract Year: 2022 Document type: Article Country of publication: United States