FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Early Childhood Hepatocerebral Degeneration Misdiagnosed as Valproate Hepatotoxicity
Ann Neurol 32:767-775, Bicknese,A.R.,et al, 1992