Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic_Likely_Pathogenic
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report.
Xie S et al.
Frontiers in Behavioral Neuroscience, 2025
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
Helgadottir HT et al.
Scientific Reports, 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
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
Bascou N et al.
Orphanet Journal of Rare Diseases, 2018
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
Zhao S et al.
Clinical Genetics, 2018
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
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