Costanza Simoncini

Pisa, Italy

Last Updated: 09/26/2026

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Found 34 publications

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.

A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.

Journal: Journal of neuromuscular diseases
Published: April 25, 2022

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

Journal: Journal of clinical medicine
Published: March 27, 2021

Therapeutical Management and Drug Safety in Mitochondrial Diseases-Update 2020.

Therapeutical Management and Drug Safety in Mitochondrial Diseases-Update 2020.

Journal: Journal of clinical medicine
Published: December 10, 2020

Clinical features of mtDNA-related syndromes in adulthood.

Clinical features of mtDNA-related syndromes in adulthood.

Journal: Archives of biochemistry and biophysics
Published: July 29, 2020

Catatonia as prominent feature of stroke-like episode in MELAS.

Catatonia as prominent feature of stroke-like episode in MELAS.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 18, 2020

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal: Journal of neurology
Published: April 22, 2020

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1.

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1.

Journal: Frontiers in neurology
Published: April 13, 2020

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 06, 2020

Exercise therapy in muscle diseases: open issues and future perspectives.

Exercise therapy in muscle diseases: open issues and future perspectives.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: January 24, 2020

Exercise-Related Oxidative Stress as Mechanism to Fight Physical Dysfunction in Neuromuscular Disorders.

Exercise-Related Oxidative Stress as Mechanism to Fight Physical Dysfunction in Neuromuscular Disorders.

Journal: Frontiers in physiology
Published: January 17, 2020

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.

Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 02, 2019

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

Journal: Neurogenetics
Published: September 09, 2019
Showing 1-12 of 34

Last Updated: 09/26/2026