Alexa Derksen

Ottawa, ON K1H8L1, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 publications

Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy.

Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 15, 2026

Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking.

Journal: Biomolecules

Published: May 01, 2026

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Journal: HGG advances

Published: April 18, 2025

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

Journal: Molecules (Basel, Switzerland)

Published: September 27, 2024

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Journal: Human mutation

Published: March 26, 2024

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Journal: Pediatric neurology

Published: November 08, 2022

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Journal: Neurogenetics

Published: May 09, 2022

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Journal: Brain : a journal of neurology

Published: April 16, 2022

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Journal: Metabolites

Published: January 21, 2022

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Journal: Neurogenetics

Published: December 14, 2021

Opioid versus opioid-free analgesia after surgical discharge: a systematic review and meta-analysis of randomised trials.

Opioid versus opioid-free analgesia after surgical discharge: a systematic review and meta-analysis of randomised trials.

Journal: Lancet (London, England)

Published: October 16, 2021

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

Journal: American journal of human genetics

Published: July 22, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026