Last Updated: 09/26/2026
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Found 13 publications
Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease.
Journal: Journal of child neurology
Published: October 03, 2022
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: November 05, 2021
Pediatric fibrocartilaginous spine embolism induced by trauma.
Journal: Radiology case reports
Published: April 11, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: April 06, 2021
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 25, 2019
Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.
Journal: Clinical case reports
Published: June 01, 2019
Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!
Journal: Contemporary clinical trials communications
Published: February 08, 2018
Natural history of infantile-onset spinal muscular atrophy.
Journal: Annals of neurology
Published: July 10, 2017
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Journal: Muscle & nerve
Published: February 07, 2017
Last Updated: 09/26/2026