A Novel <scp> <i>NPTX1</i> de novo </scp> Variant in a Late‐Onset Ataxia Patient-Reference-Cited by-同舟云学术

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A Novel NPTX1 de novo Variant in a Late‐Onset Ataxia Patient

Published:2022-03-14 Issue:6 Volume:37 Page:1319-1321
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Deppe Jonas¹^ORCID,Deininger Natalie²,Lingor Paul¹,Haack Tobias B.²³,Haslinger Bernhard¹^ORCID,Deschauer Marcus¹^ORCID

Affiliation:

1. Department of Neurology, School of Medicine Technical University of Munich Munich Germany

2. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

3. Centre for Rare Diseases University of Tübingen Tübingen Germany

Funder

Deutsche Forschungsgemeinschaft

Deutsches Zentrum für Neurodegenerative Erkrankungen

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28985

Reference7 articles.

1. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

2. Tissue-based map of the human proteome

3. Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

4. The Basic Characteristics of the Pentraxin Family and Their Functions in Tumor Progression

5. Mouse and Human Neuronal Pentraxin 1 (NPTX1): Conservation, Genomic Structure, and Chromosomal Localization

Cited by 2 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. Proteomic analysis of the human hippocampus identifies neuronal pentraxin 1 (NPTX1) as synapto‐axonal target in late‐stage Parkinson's disease;Journal of Neurochemistry;2023-07-28

2. A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia;Movement Disorders;2022-05-12

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