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
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
Dong Y et al.
Neuroscience Letters, 2021
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
Teive HAG et al.
Cerebellum (london, England), 2018
Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
Koh K et al.
Journal of Human Genetics, 2015
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