Genevieve Bernard

Montreal, QC, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 166 publications

Guanabenz in vanishing white matter: towards mechanism-based disease modification.

Guanabenz in vanishing white matter: towards mechanism-based disease modification.

Journal: The Lancet. Neurology

Published: July 10, 2026

White matter disorders at the intersection of transcription, RNA processing and translation.

White matter disorders at the intersection of transcription, RNA processing and translation.

Journal: Nature reviews. Neurology

Published: July 09, 2026

Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.

Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.

Journal: Neuropediatrics

Published: April 23, 2026

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Neuroradiological patterns and prognostic implications in type I Alexander disease.

Journal: Molecular genetics and metabolism

Published: March 16, 2026

Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].

Corrigendum to "Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome" [Biochim. Biophys. Acta Mol. Basis Dis. 1872 (2026)/168184].

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: March 12, 2026

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Journal: Molecular genetics and metabolism

Published: December 16, 2025

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Journal: Neurology

Published: November 13, 2025

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 07, 2025

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: October 07, 2025

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Journal: Molecular genetics and metabolism

Published: September 25, 2025

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Journal: Pediatric neurology

Published: August 27, 2025

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.

Journal: Neurology. Genetics

Published: July 14, 2025

Showing 1-12 of 166

Last Updated: 09/26/2026