Nadia Zanetti

Milan, 20126, Italy

Last Updated: 09/26/2026

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Found 9 publications

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

Journal: Genes

Published: May 26, 2023

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.

Journal: Neuromuscular disorders : NMD

Published: April 27, 2023

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.

Journal: Frontiers in genetics

Published: November 04, 2022

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.

Journal: Cells

Published: February 12, 2022

Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA.

Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA.

Journal: The Journal of molecular diagnostics : JMD

Published: June 08, 2020

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Journal: Human mutation

Published: March 26, 2020

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Journal: American journal of medical genetics. Part A

Published: November 23, 2018

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology

Published: August 24, 2017

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Journal: Journal of neurology

Published: September 08, 2016

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Last Updated: 09/26/2026