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
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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