Daniele Ghezzi

Milan, 20122, Italy

Last Updated: 09/26/2026

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Found 150 publications

Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics.

Exploring Heteroplasmic Variants in mtDNA: Insights from Single-Cell Transcriptomics.

Journal: Cells
Published: June 23, 2026

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.

β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.

Journal: BMJ case reports
Published: May 04, 2026

Genomic evidence for aerotrophy as a defining trait of Ktedonobacteria inhabiting silica-rich oligotrophic caves.

Genomic evidence for aerotrophy as a defining trait of Ktedonobacteria inhabiting silica-rich oligotrophic caves.

Journal: ISME communications
Published: November 25, 2025

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Journal: Frontiers in pediatrics
Published: September 12, 2025

The mannose receptor on sinusoidal lining cells mediates two-step bacterial clearance in the human spleen.

The mannose receptor on sinusoidal lining cells mediates two-step bacterial clearance in the human spleen.

Journal: Nature communications
Published: September 06, 2025

Vertebral bone marrow clot breakthrough: a powerful osteogenic and antibacterial scaffold for spinal fusion surgery.

Vertebral bone marrow clot breakthrough: a powerful osteogenic and antibacterial scaffold for spinal fusion surgery.

Journal: Life sciences
Published: September 05, 2025

Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.

Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.

Journal: Molecular genetics and metabolism
Published: July 11, 2025

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.

A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy.

Journal: Biomolecules
Published: July 09, 2025

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

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.

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

Taxonomy and functional profile of microbial communities across the depths of the Alpine Cenote Abyss ice cave.

Taxonomy and functional profile of microbial communities across the depths of the Alpine Cenote Abyss ice cave.

Journal: Scientific reports
Published: June 09, 2025

Microbial and Geochemical Variability in Sediments and Biofilms from Italian Gypsum Caves.

Microbial and Geochemical Variability in Sediments and Biofilms from Italian Gypsum Caves.

Journal: Microbial ecology
Published: April 13, 2025
Showing 1-12 of 150

Last Updated: 09/26/2026