A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring a group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. All these disorders are due to altered genes involved in DNA repair. AOA type 4 (AOA4) is caused by mutations in DNA repair facto...

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Detalles Bibliográficos
Autores principales: Campopiano, Rosa, Ferese, Rosangela, Buttari, Fabio, Femiano, Cinzia, Centonze, Diego, Fornai, Francesco, Biagioni, Francesca, Chiaravalloti, Maria Antonietta, Magnani, Mauro, Giardina, Emiliano, Ruzzo, Anna, Gambardella, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974581/
https://www.ncbi.nlm.nih.gov/pubmed/32010037
http://dx.doi.org/10.3389/fneur.2019.01331

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