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Last Updated: 02/24/2026
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Found 2776 publications
ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.
Journal: bioRxiv : the preprint server for biology
Published: January 16, 2026
Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.
Journal: Laboratory medicine
Published: December 16, 2025
Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.
Journal: BMJ case reports
Published: December 12, 2025
Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities.
Journal: Cureus
Published: November 14, 2025
Band Acro-Osteolysis as a Less Common Radiologic Pattern in Systemic Scleroderma: A Case Report.
Journal: Clinical medicine insights. Case reports
Published: October 09, 2025
Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.
Journal: Research square
Published: October 03, 2025
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.
Journal: bioRxiv : the preprint server for biology
Published: September 02, 2025
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia.
Journal: Molecular therapy. Nucleic acids
Published: August 29, 2025
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia.
Journal: Annals of clinical and translational neurology
Published: August 21, 2025
Last Updated: 02/24/2026