Costanza Lamperti

Milan, Italy

Last Updated: 09/26/2026

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Found 116 publications

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Journal: EBioMedicine
Published: February 26, 2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Journal: Neurology
Published: January 15, 2026

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Journal: European journal of neurology
Published: January 10, 2026

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Journal: Recenti progressi in medicina
Published: October 02, 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

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology
Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology
Published: July 01, 2025

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey.

National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: June 18, 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

Expanding the cognitive spectrum of mitochondrial diseases.

Expanding the cognitive spectrum of mitochondrial diseases.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: June 04, 2025
Showing 1-12 of 116

Last Updated: 09/26/2026