Virginia Brilhante

Helsinki, 00290, Finland

Last Updated: 09/26/2026

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Found 15 publications

Recessive TMOD1 mutation causes childhood cardiomyopathy.

Recessive TMOD1 mutation causes childhood cardiomyopathy.

Journal: Communications biology

Published: April 20, 2023

Genetic etiology of progressive pediatric neurological disorders.

Genetic etiology of progressive pediatric neurological disorders.

Journal: Pediatric research

Published: March 13, 2023

Author Correction: Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias.

Author Correction: Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias.

Journal: Nature metabolism

Published: August 12, 2020

Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy.

Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy.

Journal: Cell metabolism

Published: July 09, 2020

Reply to: Proofreading deficiency in mitochondrial DNA polymerase does not affect total dNTP pools in mouse embryos.

Reply to: Proofreading deficiency in mitochondrial DNA polymerase does not affect total dNTP pools in mouse embryos.

Journal: Nature metabolism

Published: April 01, 2020

Genetic background of ataxia in children younger than 5 years in Finland.

Genetic background of ataxia in children younger than 5 years in Finland.

Journal: Neurology. Genetics

Published: January 03, 2020

Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy.

Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy.

Journal: Cell metabolism

Published: November 07, 2019

Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias.

Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias.

Journal: Nature metabolism

Published: April 01, 2019

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Journal: Journal of neurology

Published: August 23, 2018

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

Genetic Basis of Severe Childhood-Onset Cardiomyopathies.

Journal: Journal of the American College of Cardiology

Published: February 13, 2018

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions.

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions.

Journal: EMBO molecular medicine

Published: November 08, 2017

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Journal: Molecular genetics and metabolism

Published: September 19, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026