Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study-Reference-Cited by-同舟云学术

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Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

Published:2003-11 Issue:11 Volume:18 Page:1405-1409
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Battisti Carla,Tarugi Patrizla,Dotti Maria Teresa,De Stefano Nicola,Vattimo Angelo,Chierichetti Francesea,Calandra Sebastiano,Federico Antonio

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference22 articles.

1. Niemann-Pick type C: A disorder of cellular cholesterol trafficking

2. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

3. Transmembrane Molecular Pump Activity of Niemann-Pick C1 Protein

4. Identification of HE1 as the Second Gene of Niemann-Pick C Disease

5. Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

Cited by 33 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients;Orphanet Journal of Rare Diseases;2024-06-11

2. Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial;Molecular Genetics and Metabolism Reports;2023-09

3. Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes;Seizure: European Journal of Epilepsy;2023-06

4. Brain hypometabolic changes in 14 adolescent–adult patients with Niemann–Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography;Journal of Neurology;2021-04-08

5. Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity;Neurology;2020-03-31

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