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
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
Aslanger AD et al.
The Turkish Journal of Pediatrics, 2022
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Tuncer FN et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Zerkaoui M et al.
Bmc Pediatrics, 2015
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