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

Monfrini, E., Pesini, A., Biella, F., Sobreira, C. F. R., Emmanuele, V., Brescia, G., Lopez, L. C., Tadesse, S., Hirano, M., Comi, G. P., Quinzii, C. M., & Di Fonzo, A. (2023). Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology Genetics, 9(2). https://doi.org/10.1212/nxg.0000000000200058
Authors:
Edoardo Monfrini
Alba Pesini
Fabio Biella
Cláudia Ferreira da Rosa Sobreira
Valentina Emmanuele
Gloria Brescia
Luís C. López
Saba Tadesse
Michio Hirano
Giacomo P. Comi
Catarina M. Quinzii
Alessio Di Fonzo
Affiliated Authors:
Edoardo Monfrini
Alba Pesini
Fabio Biella
Cláudia Ferreira da Rosa Sobreira
Valentina Emmanuele
Gloria Brescia
Luís C. López
Saba Tadesse
Michio Hirano
Giacomo P. Comi
Catarina M. Quinzii
Alessio Di Fonzo
Columbia Affiliation:
Subjects:
Metabolism and Functions of Coenzyme Q (OpenAlex Topic)
Role of Homocysteine in Health and Disease (OpenAlex Topic)
Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1212/nxg.0000000000200058
PMID:
37090936
DOI:
10.1212/nxg.0000000000200058
Journal:
Neurology: Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
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