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Last Updated: 10/31/2025
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Found 126 publications
Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.
Journal: Cerebellum (London, England)
Published: June 03, 2025
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Journal: Molecular medicine (Cambridge, Mass.)
Published: March 13, 2025
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Journal: Pediatric neurology
Published: January 14, 2024
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Journal: Parkinsonism & related disorders
Published: December 13, 2023
Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
Journal: Movement disorders clinical practice
Published: December 11, 2023
Behçet's and Cogan's syndromes - The Variable Vessel Vasculitides
Journal: Laryngo- rhino- otologie
Published: November 21, 2023
Cogan syndrome: a case report and review of the literature.
Journal: Digital journal of ophthalmology : DJO
Published: October 02, 2023
Cogan Syndrome: A Case Study and Review of the Literature.
Journal: Ear, nose, & throat journal
Published: August 08, 2023
Atypical Cogan's syndrome: A case report.
Journal: Journal francais d'ophtalmologie
Published: August 07, 2023
Speech reception after cochlear implantation for Cogan's syndrome: Case series following CARE guidelines.
Journal: European annals of otorhinolaryngology, head and neck diseases
Published: July 21, 2023
Atypical Cogan's Syndrome with Large-vessel Vasculitis Successfully Treated with Tocilizumab.
Journal: Internal medicine (Tokyo, Japan)
Published: April 09, 2023
Cogan syndrome following SARS-COV-2 infection.
Journal: Clinical rheumatology
Published: March 13, 2023
Last Updated: 10/31/2025