Silvia Marchet

Milan, Italy

Last Updated: 09/26/2026

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Found 32 publications

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

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

Journal: Clinical therapeutics

Published: November 07, 2024

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

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

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Journal: International journal of molecular sciences

Published: May 31, 2023

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

Journal: Orphanet journal of rare diseases

Published: March 10, 2023

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Journal: Journal of neurology

Published: June 08, 2022

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.

Journal: Journal of visualized experiments : JoVE

Published: March 28, 2022

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Journal: Journal of neurology

Published: May 13, 2021

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

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Journal: Frontiers in neurology

Published: January 22, 2021

Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number".

Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number".

Journal: Human mutation

Published: August 31, 2020

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice.

Targeting Multiple Mitochondrial Processes by a Metabolic Modulator Prevents Sarcopenia and Cognitive Decline in SAMP8 Mice.

Journal: Frontiers in pharmacology

Published: May 15, 2020

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Last Updated: 09/26/2026