Julia Macintosh
Montreal, QC H3A2B4, Canada
Last Updated: 09/26/2026
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Found 11 publications
Prevention of hydrocephalus with a small oligonucleotide.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: July 29, 2025
Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.
Journal: Biomolecules
Published: May 23, 2024
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Journal: Human molecular genetics
Published: April 23, 2024
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.
Journal: Human mutation
Published: November 09, 2023
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.
Journal: Frontiers in neurology
Published: July 06, 2023
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Journal: Child neurology open
Published: February 17, 2023
Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.
Journal: Frontiers in neuroscience
Published: February 15, 2023
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Journal: Brain : a journal of neurology
Published: January 20, 2023
An optimized and validated protocol for the purification of PDGFRα+ oligodendrocyte precursor cells from mouse brain tissue via immunopanning.
Journal: MethodsX
Published: September 14, 2022
RNA Polymerases I and III in development and disease.
Journal: Seminars in cell & developmental biology
Published: January 11, 2022
Showing 1-11 of 11
Last Updated: 09/26/2026