Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5 publications
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
Journal: Journal of neuromuscular diseases
Published: September 10, 2019
Dominant collagen XII mutations cause a distal myopathy.
Journal: Annals of clinical and translational neurology
Published: June 25, 2019
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Journal: American journal of human genetics
Published: December 15, 2017
Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
Journal: Neuropediatrics
Published: June 20, 2017
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.
Journal: Neurology. Genetics
Published: September 23, 2016
Showing 1-5 of 5
Last Updated: 09/26/2026