Ileana Ferrero

Parma, 43124, Italy

Last Updated: 09/26/2026

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Found 18 publications

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Journal: Nature communications
Published: February 09, 2018

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Journal: Human molecular genetics
Published: July 13, 2017

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Journal: American journal of human genetics
Published: December 03, 2016

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Journal: American journal of human genetics
Published: June 24, 2016

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Journal: EMBO molecular medicine
Published: December 25, 2015

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Journal: Brain : a journal of neurology
Published: August 01, 2015

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Journal: American journal of human genetics
Published: April 02, 2015

Novel (ovario) leukodystrophy related to AARS2 mutations.

Novel (ovario) leukodystrophy related to AARS2 mutations.

Journal: Neurology
Published: May 09, 2014

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Journal: Nature communications
Published: February 12, 2014

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Journal: PLoS genetics
Published: October 29, 2013

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Journal: Human mutation
Published: June 20, 2013

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Journal: Human mutation
Published: May 22, 2013
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Last Updated: 09/26/2026