Micol Falabella
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 24 publications
Emerging therapeutic strategies for mitochondrial DNA-related diseases.
Journal: Cell reports. Medicine
Published: November 07, 2025
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.
Journal: Nature communications
Published: September 01, 2025
Validation of blue- and clear-native polyacrylamide gel electrophoresis protocols to characterize mitochondrial oxidative phosphorylation complexes.
Journal: PloS one
Published: July 17, 2025
Activating AMPK improves pathological phenotypes due to mtDNA depletion.
Journal: The FEBS journal
Published: July 02, 2024
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Journal: Expert review of molecular diagnostics
Published: August 29, 2023
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Journal: Brain : a journal of neurology
Published: August 22, 2023
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Journal: Brain : a journal of neurology
Published: May 18, 2023
Advances in methods to analyse cardiolipin and their clinical applications.
Journal: Trends in analytical chemistry : TRAC
Published: February 08, 2023
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges.
Journal: Nature reviews. Neurology
Published: August 25, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Journal: Nature communications
Published: March 14, 2022
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Journal: Annals of neurology
Published: November 06, 2020
Cardiolipin, Mitochondria, and Neurological Disease.
Journal: Trends in endocrinology and metabolism: TEM
Published: October 29, 2020
Last Updated: 09/26/2026