Associated Papers
A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.
Magalie LP et al.
American Journal of Medical Genetics. Part A, 2025
Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.
Kamble N et al.
Movement Disorders Clinical Practice, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
Seidahmed MZ et al.
Bmc Neurology, 2020
The Salih ataxia mutation impairs Rubicon endosomal localization.
Assoum M et al.
Cerebellum (london, England), 2013
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