Niemann-Pick disease type C symptomatology: an expert-based clinical description-Reference-Cited by-同舟云学术

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Niemann-Pick disease type C symptomatology: an expert-based clinical description

Published:2013 Issue:1 Volume:8 Page:166
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Mengel Eugen,Klünemann Hans-Hermann,Lourenço Charles M,Hendriksz Christian J,Sedel Frédéric,Walterfang Mark,Kolb Stefan A

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference58 articles.

1. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

2. Niemann-Pick disease type C

3. Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

4. Linkage of Niemann-Pick disease type C to human chromosome 18.

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

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1. Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-12

2. Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series;Molecular Genetics and Metabolism Reports;2024-09

3. Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease;Frontiers in Pharmacology;2024-08-28

4. A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann–Pick Disease Type C;Genes;2024-08-13

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