Associated Papers
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
36370000 (PubMed )
Supplement: awac413_supplementary_data.zip › brain-2022-00853-File010.xlsx › S4._all_rare_variants
Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.
Hatton C et al.
Brain : a Journal of Neurology, 2022
34999780 (PubMed )
Supplement: awac002_supplementary_data.zip › brain-2021-02094-File005.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 289.143
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