Cargando…
Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process. We aimed to determine FRDA-positive subjects am...
Autores principales: | Brown, Alexander F., Parkinson, Michael H., Garcia-Moreno, Hector, Mudanohwo, Ese, Labrum, Robyn, Sweeney, Mary, Giunti, Paola |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697107/ https://www.ncbi.nlm.nih.gov/pubmed/34956042 http://dx.doi.org/10.3389/fneur.2021.736253 |
Ejemplares similares
-
Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia
por: Zeitlberger, Anna M., et al.
Publicado: (2018) -
Functional and Structural Brain Damage in Friedreich's Ataxia
por: Vavla, Marinela, et al.
Publicado: (2018) -
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner
por: Nethisinghe, Suran, et al.
Publicado: (2021) -
Effectiveness of rehabilitation intervention in persons with Friedreich ataxia
por: Paparella, Gabriella, et al.
Publicado: (2023) -
Identification of telomere dysfunction in Friedreich ataxia
por: Anjomani Virmouni, Sara, et al.
Publicado: (2015)