Associated Papers
Is spastic ataxia 8 a protein misfolding disorder?
Ferreira-Peralta P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
Almatrafi A et al.
The Journal of Gene Medicine, 2020
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V et al.
European Journal of Neurology, 2020
Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Baldi C et al.
Clinical Genetics, 2018
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Dorboz I et al.
Brain : a Journal of Neurology, 2017
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