Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Is spastic ataxia 8 a protein misfolding disorder?
Ferreira-Peralta P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P et al.
Neurology. Genetics, 2021
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
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V et al.
American Journal of Human Genetics, 2017
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