Onset features and time to diagnosis in Friedreich’s Ataxia

BACKGROUND: In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich’s Ataxia (FRDA), a genetic disorder usually caused by homozygous GAA-repeat expansions. METHODS: Six hundred eleven genet...

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Detalles Bibliográficos
Autores principales: Indelicato, Elisabetta, Nachbauer, Wolfgang, Eigentler, Andreas, Amprosi, Matthias, Matteucci Gothe, Raffaella, Giunti, Paola, Mariotti, Caterina, Arpa, Javier, Durr, Alexandra, Klopstock, Thomas, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Didszdun, Claire, Schulz, Jörg B., Boesch, Sylvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397644/
https://www.ncbi.nlm.nih.gov/pubmed/32746884
http://dx.doi.org/10.1186/s13023-020-01475-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397644/
https://www.ncbi.nlm.nih.gov/pubmed/32746884
http://dx.doi.org/10.1186/s13023-020-01475-9

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