Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.
Anna A et al.
Journal of Neurology, 2026
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.
Almudhry M et al.
Molecular Genetics and Metabolism Reports, 2025
Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.
Peng H et al.
The Journal of Biological Chemistry, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
Expression study of Krabbe Disease GALC missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels.
Peng H et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Hwang N et al.
Clinical Genetics, 2024
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.
Forbes E et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Iacono D et al.
Neurobiology of Disease, 2022
An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.
Sasaki M et al.
Pathology International, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F et al.
European Journal of Human Genetics : Ejhg, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Iacono S et al.
Neurogenetics, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.
Wu G et al.
Frontiers in Neuroscience, 2022
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
D TK et al.
Journal of Biomolecular Structure & Dynamics, 2021
Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.
Krieg SI et al.
Orphanet Journal of Rare Diseases, 2020
Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.
Kripps K et al.
Journal of Child Neurology, 2020
Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction.
Weinstock NI et al.
Neuron, 2020
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.
Bascou NA et al.
Frontiers in Neurology, 2020
Screening for Krabbe disease: The first 2 years' experience.
Pannuzzo G et al.
Acta Neurologica Scandinavica, 2019
Revisiting magnetic resonance imaging pattern of Krabbe disease - Lessons from an Indian cohort.
Muthusamy K et al.
Journal of Clinical Imaging Science, 2019
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients.
Irahara-Miyana K et al.
Human Genome Variation, 2018
Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.
Africa L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.
Lim SM et al.
Oncotarget, 2016
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
Sakai N et al.
Journal of Neuroscience Research, 2016
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
Jang DS et al.
Journal of Neuroscience Research, 2016
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Spratley SJ et al.
Traffic (copenhagen, Denmark), 2016
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.
Shao YH et al.
Neurogenetics, 2016
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
Shin D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
Gucev Z et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015
Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.
Berardi AS et al.
Molecular Genetics and Metabolism, 2014
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
Stem cell transplantation for adult-onset krabbe disease: report of a case.
Sharp ME et al.
Jimd Reports, 2013
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
Szymańska K et al.
Folia Neuropathologica, 2012
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010