Associated Papers
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
A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report.
Acosta-Paguada LF et al.
Journal of Medical Case 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
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.
Feo F et al.
European Journal of Neurology, 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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D et al.
The Journal of Clinical Investigation, 2024
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Iacono S et al.
Neurogenetics, 2022
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
Aslanger AD et al.
The Turkish Journal of Pediatrics, 2022
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Feltri ML et al.
Glia, 2021
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.
Basheeruddin K 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
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Mutations in sphingolipid metabolism genes are associated with ADHD.
Henriquez-Henriquez M et al.
Translational Psychiatry, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Genotype and phenotype classification of 29 patients affected by Krabbe disease.
Madsen AMH et al.
Jimd Reports, 2019
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Beltran-Quintero ML et al.
Orphanet Journal of Rare Diseases, 2019
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz KA et al.
Annals of Neurology, 2018
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
Analysis of age-related changes in psychosine metabolism in the human brain.
Marshall MS et al.
Plos One, 2018
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.
Krägeloh-Mann I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S et al.
Molecular Genetics and Metabolism, 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
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
Dimitriou E et al.
Jimd Reports, 2016
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone R et al.
Molecular Genetics and Metabolism, 0