Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C-Reference-Cited by-同舟云学术

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Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type C

Published:2017-04-07 Issue:5 Volume:37 Page:426-430
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Kodachi Tsuyoshi¹,Matsumoto Shizuko¹,Mizuguchi Masashi²,Osaka Hitoshi¹,Kanai Nobuyuki³,Nanba Eiji⁴,Ohno Kousaku⁵,Yamagata Takanori²^ORCID

Affiliation:

1. Department of Pediatrics; Jichi Medical University; Shimotsuke Japan

2. Department of Developmental Medical Sciences, Graduate School of Medicine; the University of Tokyo; Tokyo Japan

3. Department of Pathology; Jichi Medical University; Shimotsuke Japan

4. Research Center for Bioscience and Technology; Tottori University; Yonago Japan

5. Department of Child Neurology; Tottori University; Yonago Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12380/fullpdf

Reference17 articles.

1. Niemann-Pick disease type C;Vanier;Clin Genet,2003

2. Niemann-Pick disease type C;Vanier;Orphanet J Rare Dis,2010

3. Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report;Degtyareva;J Med Case Reports,2016

4. 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;Gilles;Am J Hum Genet,2001

5. A Riddle Wrapped in a Mystery: Understanding Niemann-Pick Disease, Type C;Patterson;Neurologist,2003

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1. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant;Journal of Rare Diseases;2024-07-08

2. Endo-lysosomal dysfunction and neuronal–glial crosstalk in Niemann–Pick type C disease;Philosophical Transactions of the Royal Society B: Biological Sciences;2024-02-19

3. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature;BMC Infectious Diseases;2024-01-30

4. Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann–Pick Disease Type C;Genes;2024-01-15

5. Therapeutic Strategies for Lysosomal Storage Diseases by Targeting Glial Cells;Physiology and Function of Glial Cells in Health and Disease;2023-12-18

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