High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

Published:2017-03-15 Issue:4 Volume:7 Page:e00669
ISSN:2162-3279
Container-title:Brain and Behavior
language:en
Short-container-title:Brain Behav

Author:

Tripolszki Kornélia¹,Török Dóra¹,Goudenège David²,Farkas Katalin³,Sulák Adrienn¹,Török Nóra⁴,Engelhardt József I.⁴,Klivényi Péter⁴,Procaccio Vincent²,Nagy Nikoletta¹³^ORCID,Széll Márta¹³

Affiliation:

1. Department of Medical Genetics; University of Szeged; Szeged Hungary

2. Département de Biochimie et Génétique; IBS-CHU Angers; Angers Cedex 9 France

3. MTA SZTE Dermatological Research Group; University of Szeged; Szeged Hungary

4. Department of Neurology; University of Szeged; Szeged Hungary

Funder

Társadalmi Megújulás Operatív Program

Hungarian Brain Research Program

Publisher

Wiley

Subject

Behavioral Neuroscience

Reference33 articles.

1. ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics;Abel;Human Mutation,2012

2. Good practice in the management of amyotrophic lateral sclerosis: Clinical guidelines. An evidence-based review with good practice points. EALSC Working Group;Andersen;Amyotrophic Lateral Sclerosis,2007

3. Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients;Anheim;Brain,2009

4. Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression;Avemaria;Amyotrophic Lateral Sclerosis,2011

5. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4);Chen;American Journal of Human Genetics,2004

Cited by 25 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. Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients;Journal of Neuromuscular Diseases;2024-09-03

2. Role of senataxin in R-loop-mediated neurodegeneration;Brain Communications;2024

3. Role of Senataxin in Amyotrophic Lateral Sclerosis;Journal of Molecular Neuroscience;2023-11-20

4. An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant;Journal of Neuropathology & Experimental Neurology;2023-07-20

5. A novel mouse allele of the DNA/RNA helicase senataxin (Setx^spcar3) causing meiotic arrest of spermatocytes and male infertility;2023-04-13