High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
about
Diagnostic workup and management of patients with suspected Niemann-Pick type C diseaseDevelopmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseFostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Prevalence of adenylosuccinate lyase deficiency based on aggregated exome dataNovel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target.Immune dysfunction in Niemann-Pick disease type C.Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.Neurological Dysfunction in Early Maturity of a Model for Niemann-Pick C1 Carrier Status.Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening toolsGenome sequencing in a case of Niemann-Pick type CDevelopment of a bile acid-based newborn screen for Niemann-Pick disease type CActivation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis.NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls.Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol ScreeningModeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.Niemann-Pick type C: focus on the adolescent/adult onset form.Role of STARD4 and NPC1 in intracellular sterol transport.Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.Necroptosis in neurodegenerative diseases: a potential therapeutic target.Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1.Multiple Surface Regions on the Niemann-Pick C2 Protein Facilitate Intracellular Cholesterol Transport.Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C.Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.The Spectrum of Niemann-Pick Type C Disease in Greece.Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.Gait, Balance, and Coordination Impairments in Niemann Pick Disease, Type C1.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-Β-Cyclodextrin.The extending spectrum of NPC1-related human disorders: from Niemann-Pick C1 Disease to obesity.High-content screen for modifiers of Niemann-Pick Type C disease in patient cells.Consensus clinical management guidelines for Niemann-Pick disease type C.
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P2860
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
High incidence of unrecognized ...... parallel sequencing data sets
@ast
High incidence of unrecognized ...... parallel sequencing data sets
@en
type
label
High incidence of unrecognized ...... parallel sequencing data sets
@ast
High incidence of unrecognized ...... parallel sequencing data sets
@en
prefLabel
High incidence of unrecognized ...... parallel sequencing data sets
@ast
High incidence of unrecognized ...... parallel sequencing data sets
@en
P2093
P2860
P50
P356
P1433
P1476
High incidence of unrecognized ...... parallel sequencing data sets
@en
P2093
Daniel S Ory
Forbes D Porter
James Iben
P2860
P2888
P356
10.1038/GIM.2015.25
P407
P50
P577
2015-03-12T00:00:00Z