Last Updated: 09/26/2026
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Found 52 publications
Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases.
Journal: Journal of neurology
Published: January 07, 2026
Utilization of a Deep Learning Algorithm for Automated Segmentation of Median Nerve from Ultrasound Obtained from the Distal Forearm and Wrist.
Journal: Bioengineering (Basel, Switzerland)
Published: October 31, 2025
An inherited hypomorphic variant in PIEZO2 reveals structural features of mechanotransduction.
Journal: Neuron
Published: September 29, 2025
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: September 19, 2025
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.
Journal: Journal of inherited metabolic disease
Published: August 26, 2025
Repetitive Nerve Stimulation (RNS) Studies in Infants: Are Infants Just "Little Adults" or Do They Deserve Their Own Parameters (or Cut-Off Values) for RNS?
Journal: Muscle & nerve
Published: June 26, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Journal: Annals of clinical and translational neurology
Published: March 26, 2025
Systematic phenotype and genotype characterization of Moebius syndrome.
Journal: Genetics in medicine open
Published: November 05, 2024
Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Journal: Seminars in pediatric neurology
Published: October 07, 2024
Unusual delayed and prolonged arm weakness and atrophy following botulinum toxin injection for musician's cramp: case report.
Journal: Journal of neural transmission (Vienna, Austria : 1996)
Published: August 23, 2024
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Journal: The New England journal of medicine
Published: March 20, 2024
Last Updated: 09/26/2026