Last Updated: 09/26/2026
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Found 6 publications
A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: August 01, 2022
Asymptomatic Retinal Vein Occlusion in a 13-Year-Old With Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy With Liability to Pressure Palsies.
Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: April 19, 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
Neuropathic cachexia associated with type 1 diabetes in an adolescent girl.
Journal: Pediatric neurology
Published: December 17, 2012
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Last Updated: 09/26/2026