Alessandra Torraco
Rome, 00146, Italy
Last Updated: 09/26/2026
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Found 46 publications
Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.
Journal: Brain : a journal of neurology
Published: June 13, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Journal: Brain : a journal of neurology
Published: June 13, 2025
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Journal: International journal of molecular sciences
Published: May 29, 2024
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Journal: Frontiers in genetics
Published: May 24, 2024
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.
Journal: Nature metabolism
Published: September 06, 2023
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Journal: Annals of clinical and translational neurology
Published: June 30, 2023
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Journal: Cerebellum (London, England)
Published: November 21, 2022
Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans.
Journal: Biochimica et biophysica acta. General subjects
Published: May 20, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Journal: American journal of human genetics
Published: March 27, 2022
Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: February 16, 2022
Last Updated: 09/26/2026