A <i>De Novo</i> Missense <scp> <i>NPTX1</i> </scp> Variant in an Individual with Infantile‐Onset Cerebellar Ataxia-Reference-Cited by-同舟云学术

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A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia

Published:2022-05-12 Issue:8 Volume:37 Page:1774-1776
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Schöggl Johanna¹^ORCID,Siegert Sandy¹^ORCID,Boltshauser Eugen²^ORCID,Freilinger Michael¹,Schmidt Wolfgang M.³^ORCID

Affiliation:

1. Department of Pediatric and Adolescent Medicine Medical University Vienna Vienna Austria

2. Department of Pediatric Neurology (Emeritus) University Children's Hospital Zurich Zurich Switzerland

3. Neuromuscular Research Department, Center for Anatomy and Cell Biology Medical University of Vienna Vienna Austria

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29054

Reference6 articles.

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

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

3. Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

4. A general framework for estimating the relative pathogenicity of human genetic variants

5. ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants

Cited by 3 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. Spatiotemporal Gait Analysis of Patients with Spinocerebellar Ataxia Types 3 and 10 Using Inertial Measurement Units: A Comparative Study;The Cerebellum;2024-06-13

2. Spatiotemporal gait analysis of patients with spinocerebellar ataxia types 3 and 10 using Inertial Measurement Units: a comparative study;2024-04-25

3. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments;The Lancet Neurology;2023-08

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