Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Macías-Vidal J et al.
The Febs Journal, 2014
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.
Louwette S et al.
Human Molecular Genetics, 2013
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2011
Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain.
Macías-Vidal J et al.
Molecular Genetics and Metabolism, 2009
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM et al.
Clinical Genetics, 2005
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