Caterina Garone
Bologna, Italy
Last Updated: 09/26/2026
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Found 40 publications
Novel Homozygous TUBGCP6 Variant Impairs Brain Development: Case Report and Literature Review.
Journal: Journal of child neurology
Published: April 25, 2026
Disease burden of untreated thymidine kinase 2 deficiency: insights from a large patient dataset.
Journal: Brain communications
Published: September 15, 2025
Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.
Journal: Brain communications
Published: September 15, 2025
Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: March 14, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.
Journal: Neurology
Published: March 03, 2025
Mitochondrial metabolism in neural stem cells and implications for neurodevelopmental and neurodegenerative diseases.
Journal: Journal of translational medicine
Published: December 29, 2023
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Journal: European journal of human genetics : EJHG
Published: December 11, 2023
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Journal: Brain communications
Published: November 29, 2023
Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage.
Journal: European journal of human genetics : EJHG
Published: August 27, 2023
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Journal: Neurology. Genetics
Published: April 03, 2023
From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.
Journal: Life (Basel, Switzerland)
Published: February 15, 2022
Last Updated: 09/26/2026