Claudia Nesti

Pisa, Italy

Last Updated: 09/26/2026

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Found 63 publications

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.

Journal: Clinical genetics

Published: December 29, 2024

Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Journal: Journal of neurology

Published: November 05, 2024

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.

Journal: Frontiers in genetics

Published: May 24, 2024

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Journal: Journal of neurology

Published: April 22, 2024

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.

OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.

Journal: Human molecular genetics

Published: November 02, 2023

Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.

Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.

Journal: International journal of molecular sciences

Published: October 24, 2023

Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies.

Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies.

Journal: Circulation. Genomic and precision medicine

Published: May 17, 2023

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

Journal: International journal of molecular sciences

Published: April 20, 2023

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

Journal: Journal of neurology

Published: February 10, 2023

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.

Journal: Neuropediatrics

Published: January 24, 2023

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.

Journal: Journal of neuromuscular diseases

Published: November 21, 2022

Long term follow-up in two siblings with Sengers syndrome: Case report.

Long term follow-up in two siblings with Sengers syndrome: Case report.

Journal: Italian journal of pediatrics

Published: February 28, 2022

Showing 1-12 of 63

Last Updated: 09/26/2026