Associated Papers
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.
Encarnação M et al.
Genes, 2023
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
Las Heras M et al.
Npj Genomic Medicine, 2023
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C et al.
Orphanet Journal of Rare Diseases, 2023
Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.
Guan C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.
Seker Yilmaz B et al.
International Journal of Molecular Sciences, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A et al.
Journal of Clinical Medicine, 2020
Novel compound heterozygous mutation in NPC1 gene cause Niemann-Pick disease type C with juvenile onset.
Costanzo MC et al.
Journal of Genetics, 2020
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud IG et al.
Clinical Genetics, 2019
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
[Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation].
Yang R et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
Millat G et al.
American Journal of Human Genetics, 2001
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Yamamoto T et al.
Human Genetics, 0