Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of Next Generation Sequencing (NGS) technologies is increasing the diagnostic rate, which can be influenced...

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Detalhes bibliográficos
Publicado no:Brain Sci
Main Authors: Riso, Vittorio, Rossi, Salvatore, Nicoletti, Tommaso F., Tessa, Alessandra, Travaglini, Lorena, Zanni, Ginevra, Aiello, Chiara, Perna, Alessia, Barghigiani, Melissa, Pomponi, Maria Grazia, Santorelli, Filippo M., Silvestri, Gabriella
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7919782/
https://ncbi.nlm.nih.gov/pubmed/33669240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci11020246
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