Bi‐allelic variants in <scp><i>MDH2</i></scp>: Expanding the clinical phenotype
Chiara Ticci(Meyer Children's Hospital), Filippo M. Santorelli(Fondazione Stella Maris)
Cited by 9
Related Papers
Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy
|Scientific Reports|2019|41
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model
|Biomolecules|2022|11
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model
|Neurobiology of Disease|2024|10
CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease
|Molecular Psychiatry|2025|2