Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor?
Papini N et al.
Neuroscience, 2025
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Feltri ML et al.
Glia, 2021
Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.
Nasir G et al.
Frontiers in Medicine, 2021
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type.
Irahara-Miyana K et al.
Journal of Human Genetics, 2018
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
Hossain MA et al.
Journal of Human Genetics, 2015
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Hossain MA et al.
Gene, 2014
Phenotypic variability of Krabbe disease across the lifespan.
Liao P et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.
Xu C et al.
Journal of Human Genetics, 2006
Molecular heterogeneity of Krabbe disease.
Fu L et al.
Journal of Inherited Metabolic Disease, 1999
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