Associated Papers
Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.
Erro ME et al.
Neurology. Genetics, 2025
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
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Breza M et al.
Brain : a Journal of Neurology, 2020
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