Frontiers in Neurology | Neurogenetics

Review

Published on 21 May 2025

Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review

in Neurogenetics

Ying Zhao
YaRu Lu
FengYu Wang
YaDan Wang
YaQiong Li
RuiHua Sun
JunKui Shang
Chao Jiang
Jiewen Zhang

Frontiers in Neurology

doi 10.3389/fneur.2025.1573052

227 views

Original Research

Accepted on 06 May 2025

Clinical and Genetic Analysis of a Family with Cerebrotendinous Xanthomatosis

in Neurogenetics

Guoliang You
Zhaoxia Wang
Lin Zhang
Xuan Chen
Xiaodong Zhang
Xiaolian Xing
Yangli Su
Zhang Tian LI
Yanping Zhu
Jiangping Wang

Frontiers in Neurology

doi 10.3389/fneur.2025.1566740

Case Report

Published on 17 Apr 2025

Neurocysticercosis detected by targeted next-generation sequencing of cerebrospinal fluid: a case report

in Neurogenetics

Xintong Ren
HuiQin Sun
Yanghong Cheng
Yunzhou Zhang
Daiquan Gao

Frontiers in Neurology

doi 10.3389/fneur.2025.1504348

796 views

Mini Review

Published on 11 Apr 2025

Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies

in Neurogenetics

Umar Saeed
Zahra Zahid Piracha
Muhammad Nouman Tariq
Shayan Syed
Maria Rauf
Laiba Razaq
Muhammad Kaleem Iftikhar
Amna Maqsood
Syed Muhammad Ahsan

Frontiers in Neurology

doi 10.3389/fneur.2025.1422707

1,368 views

Original Research

Published on 08 Apr 2025

Exploration of the shared gene signatures and molecular mechanisms between cardioembolic stroke and ischemic stroke

in Neurogenetics

Xuan Wang
Xueyuan Liu

Frontiers in Neurology

doi 10.3389/fneur.2025.1567902

890 views

Original Research

Published on 18 Mar 2025

Combined impact of CHCHD10 p.Gly66Val and three other variants suggests oligogenic contributions to ALS

in Neurogenetics

YiYing Wang
YuXin Mi
Hui Wang
JingSi Jiang
Le Mao
YanXi Heng
XiaoGang Li
Min Deng

Frontiers in Neurology

doi 10.3389/fneur.2025.1438207

903 views

Mini Review

Published on 12 Feb 2025

Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis

in Neurogenetics

Eleonora Sabetta
Davide Ferrari
Locatelli Massimo
Sulev Kõks

Frontiers in Neurology

doi 10.3389/fneur.2025.1522445

1,484 views

Editorial

Published on 10 Feb 2025

Editorial: Consanguinity and rare genetic neurological diseases

in Neurogenetics

Suzanne Lesage
Mustafa A. Salih

Frontiers in Neurology

doi 10.3389/fneur.2025.1494253

1,261 views

Original Research

Published on 20 Jan 2025

Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability

in Neurogenetics

Baoqiong Liao
Wuming Xie
Shuwen He

Frontiers in Neurology

doi 10.3389/fneur.2025.1524532

1,294 views
1 citation

Opinion

Published on 06 Jan 2025

AHDC1/Gibbin: a master regular of chromatin structure and gene transcription

in Neurogenetics

Linyi Li
Chao Zhang
Yanwen Qin

Frontiers in Neurology

doi 10.3389/fneur.2024.1388029

961 views

Systematic Review

Published on 18 Dec 2024

TP53 oncogenic variants as prognostic factors in individuals with glioblastoma: a systematic review and meta-analysis

in Neurogenetics

Diego Esperante
Kena Daza Galicia
Kalu Gabriel Rivas-Cuervo
Bernardo Cacho-Díaz
Catalina Trejo-Becerril
Lucia Taja-Chayeb
Orwa Aboud
José Alberto Carlos-Escalante
Talia Wegman-Ostrosky

Frontiers in Neurology

doi 10.3389/fneur.2024.1490246

1,317 views

Brief Research Report

Published on 22 Nov 2024

A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3

in Neurogenetics

Huaqi Liu
Jing Dong
Zhe Xie
Li Yu

Frontiers in Neurology

doi 10.3389/fneur.2024.1495711

1,219 views

Original Research

Published on 20 Nov 2024

Dyslipidemia patterns and associated factors in Wilson’s disease patients: a clinical analysis

in Neurogenetics

Rong Wu
Xingguang Luo
Xiao-Ping Wang

Frontiers in Neurology

doi 10.3389/fneur.2024.1411236

1,016 views

Brief Research Report

Published on 08 Nov 2024

Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review

in Neurogenetics

Yan-Juan Wang
Si-Xiu Li
Wen-Guang Hu
Li-Li Zhao
Mingping Lan
Jia-Lei Chen

Frontiers in Neurology

doi 10.3389/fneur.2024.1428076

1,852 views

Original Research

Published on 01 Nov 2024

“Living with” CACNA1A-related hemiplegic migraine, a disease concept model

in Neurogenetics

Donna Schaare
Kendra Allison
Kara Skorge
Pangkong Fox
Laina Lusk
Sara M. Sarasua
Ingo Helbig
Luigi Boccuto

Frontiers in Neurology

doi 10.3389/fneur.2024.1460187

1,340 views
1 citation

Editorial

Published on 22 Oct 2024

Editorial: Effects of autism spectrum disorder (ASD) risk genes on phenotypes of each hierarchy

in Neurogenetics

Jun Egawa
Vance P. Lemmon
Toshiyuki Someya

Frontiers in Neurology

doi 10.3389/fneur.2024.1508494

950 views