Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency

BACKGROUND AND OBJECTIVES: Coenzyme Q(10) (CoQ(10))–deficient cerebellar ataxia can be due to pathogenic variants in genes encoding for CoQ(10) biosynthetic proteins or associated with defects in protein unrelated to its biosynthesis. Diagnosis is crucial because patients may respond favorably to Co...

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Detalles Bibliográficos
Autores principales: Monfrini, Edoardo, Pesini, Alba, Biella, Fabio, Sobreira, Claudia F.R., Emmanuele, Valentina, Brescia, Gloria, Lopez, Luis Carlos, Tadesse, Saba, Hirano, Michio, Comi, Giacomo P., Quinzii, Catarina Maria, Di Fonzo, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117701/
https://www.ncbi.nlm.nih.gov/pubmed/37090936
http://dx.doi.org/10.1212/NXG.0000000000200058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117701/
https://www.ncbi.nlm.nih.gov/pubmed/37090936
http://dx.doi.org/10.1212/NXG.0000000000200058

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