Last Updated: 09/26/2026
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Found 16 publications
Maternal cobalamin deficiency causing infantile seizures and developmental regression.
Journal: BMJ case reports
Published: November 12, 2025
NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic Malignancy.
Journal: Pediatric blood & cancer
Published: January 27, 2025
Comparison of B Cell Variable Region Gene Segment Characteristics in Neuro-autoantibodies.
Journal: ImmunoHorizons
Published: April 17, 2024
A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.
Journal: PLoS genetics
Published: May 20, 2022
The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.
Journal: American journal of medical genetics. Part A
Published: February 28, 2021
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Journal: Glia
Published: January 29, 2021
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.
Journal: Frontiers in molecular biosciences
Published: January 28, 2020
Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
Journal: Nature communications
Published: November 21, 2019
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.
Journal: Scientific reports
Published: March 08, 2018
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.
Journal: Scientific reports
Published: September 21, 2017
Last Updated: 09/26/2026