Alexanne Cuillerier

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 23 publications

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Journal: Clinical genetics

Published: March 12, 2025

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Journal: Annals of clinical and translational neurology

Published: October 23, 2024

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Journal: EBioMedicine

Published: December 29, 2023

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Journal: American journal of medical genetics. Part A

Published: September 29, 2023

Accessory subunit NDUFB4 participates in mitochondrial complex I supercomplex formation.

Accessory subunit NDUFB4 participates in mitochondrial complex I supercomplex formation.

Journal: The Journal of biological chemistry

Published: September 21, 2023

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.

Journal: medRxiv : the preprint server for health sciences

Published: August 14, 2023

Radiation induces long-term muscle fibrosis and promotes a fibrotic phenotype in fibro-adipogenic progenitors.

Radiation induces long-term muscle fibrosis and promotes a fibrotic phenotype in fibro-adipogenic progenitors.

Journal: Journal of cachexia, sarcopenia and muscle

Published: May 03, 2023

Right Ventricular Maladaptation to Pressure Overload in Fischer Rats Is Associated With Profound Deficiency in Adenylate Kinase 1 and Impaired Ventricular Energetics.

Right Ventricular Maladaptation to Pressure Overload in Fischer Rats Is Associated With Profound Deficiency in Adenylate Kinase 1 and Impaired Ventricular Energetics.

Journal: Hypertension (Dallas, Tex. : 1979)

Published: October 24, 2022

A genetic mouse model of lean-NAFLD unveils sexual dimorphism in the liver-heart axis.

A genetic mouse model of lean-NAFLD unveils sexual dimorphism in the liver-heart axis.

Journal: Communications biology

Published: September 21, 2022

Exercise training enhances muscle mitochondrial metabolism in diet-resistant obesity.

Exercise training enhances muscle mitochondrial metabolism in diet-resistant obesity.

Journal: EBioMedicine

Published: March 01, 2022

The intra-mitochondrial O-GlcNAcylation system rapidly modulates OXPHOS function and ROS release in the heart.

The intra-mitochondrial O-GlcNAcylation system rapidly modulates OXPHOS function and ROS release in the heart.

Journal: Communications biology

Published: July 06, 2021

Oxidative stress-induced senescence mediates inflammatory and fibrotic phenotypes in fibroblasts from systemic sclerosis patients.

Oxidative stress-induced senescence mediates inflammatory and fibrotic phenotypes in fibroblasts from systemic sclerosis patients.

Journal: Rheumatology (Oxford, England)

Published: November 20, 2020

Showing 1-12 of 23

Last Updated: 09/26/2026