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Last Updated: 10/31/2025
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Found 160 publications
Synergistic Convergence in Horizontal Gaze Palsy With Progressive Scoliosis: A Case Report.
Journal: Journal of pediatric ophthalmology and strabismus
Published: September 26, 2025
Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13.
Journal: Cerebellum (London, England)
Published: March 19, 2025
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.
Journal: Neurogenetics
Published: December 17, 2024
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.
Journal: Neurogenetics
Published: December 16, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Journal: Journal of neuromuscular diseases
Published: August 30, 2024
Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
Journal: Annals of clinical and translational neurology
Published: February 09, 2024
Horizontal gaze palsy with progressive scoliosis.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: May 26, 2023
A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: May 25, 2023
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
Journal: Molecular genetics & genomic medicine
Published: February 25, 2023
A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.
Journal: Neuromuscular disorders : NMD
Published: February 13, 2023
Last Updated: 10/31/2025