<i>IRF2BPL</i> Causes Mild Intellectual Disability Followed by Late-Onset Ataxia-Reference-Cited by-同舟云学术

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia

Published:2023-12 Issue:6 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Heide Solveig¹^ORCID,Davoine Claire-Sophie¹,Cunha Paulina¹,Scherer-Gagou Clarisse¹,Keren Boris¹,Stevanin Giovanni¹,Charles Perrine¹,Heron Delphine¹,Brice Alexis¹,Durr Alexandra¹

Affiliation:

1. From the Genetic Department (S.H., B.K., P. Charles, D.H., A.D.), Assistance Publique-Hôpitaux de Paris (AP-HP) Pitié-Salpêtrière; Reference Center for Rare Diseases « Intellectual disabilites of rare causes » « Déficiences Intellectuelles de Causes Rares » (S.H., P. Charles, D.H.), Pitié-Salpêtrière Hospital; Sorbonne Université (C.-S.D., P. Cunha, G.S., A.B., A.D.), Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP); Department of Neurology...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200096

Reference13 articles.

1. Prioritization of neurodevelopmental disease genes by discovery of new mutations

2. A framework for the interpretation of de novo mutation in human disease

3. Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

4. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

5. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

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

2. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation;Annals of Clinical and Translational Neurology;2024-04-22