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Human Mutation|April 14, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic DatabasesAlexa Derksen, Rachel Thompson, Madeeha Shaikh, et al.
Faculty Reviews|March 4, 2021
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?Benoit Coulombe, Alexa Derksen, Roberta La Piana, et al.
Neurogenetics|January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegenerationJulia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Child Neurology Open|August 9, 2021
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case ReportAlexa Derksen, Amytice Mirchi, Luan T Tran, et al.
Neurobiology of Aging|April 6, 2020
Leucine-rich repeat kinase-2 (LRRK2) modulates microglial phenotype and dopaminergic neurodegenerationZach Dwyer, Chris Rudyk, Ashley Thompson, et al.
Molecules (Basel, Switzerland)|November 9, 2024
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE MyopathyCristina Manis, Mattia Casula, Andreas Roos, et al.
Neurobiology of Aging|January 15, 2021
Characterizing the protracted neurobiological and neuroanatomical effects of paraquat in a murine model of Parkinson's diseaseZach Dwyer, Chris Rudyk, Kyle Farmer, et al.
Neurogenetics|August 3, 2022
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disordersAmytice Mirchi, Alexa Derksen, Luan T Tran, et al.
Biomolecules|July 28, 2026
Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and TraffickingStephen H Holland, Ricardo Carmona-Martinez, Andreas Hentschel, et al.
Molecular Neurobiology|November 23, 2019
mGluR5 Allosteric Modulation Promotes Neurorecovery in a 6-OHDA-Toxicant Model of Parkinson's DiseaseKyle Farmer, Khaled S Abd-Elrahman, Alexa Derksen, et al.
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