Kether Guerrero

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 24 publications

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

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.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Journal: Frontiers in neurology

Published: July 06, 2023

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Journal: Frontiers in neurology

Published: January 20, 2023

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Journal: HGG advances

Published: April 16, 2021

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.

Journal: Journal of child neurology

Published: July 29, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 29, 2020

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Journal: Neurology. Genetics

Published: November 06, 2019

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.

Journal: Neurology. Genetics

Published: April 23, 2019

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

Journal: Journal of child neurology

Published: November 30, 2018

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Journal: Movement disorders clinical practice

Published: June 13, 2018

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Journal: Nature communications

Published: January 05, 2018

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Journal: American journal of human genetics

Published: November 04, 2017

Showing 1-12 of 24

Last Updated: 09/26/2026