Associated Papers
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.
Miyamoto S et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Zagaglia S et al.
Neurology, 2021
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