Frontiers in Neurology | Neurogenetics

Original Research

Accepted on 02 Oct 2025

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)

in Neurogenetics

Ruohao Wu
Xiangyang Luo
Zhe Meng
Wenting Tang
Liyang Liang

Frontiers in Neurology

doi 10.3389/fneur.2025.1574021

141 views

Review

Published on 02 Oct 2025

Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders

in Neurogenetics

Ziming Xu
Yan Xu
Xiaoyou Tao
Chen Chen
Guojuan Dong

Frontiers in Neurology

doi 10.3389/fneur.2025.1664776

1,510 views

Editorial

Accepted on 22 Sep 2025

Editorial: Genetic Insights and Diagnostic Innovations in Cerebrovascular and Cerebrospinal Fluid Disorders

in Neurogenetics

Ling Li
Haipeng Liu
Linfang Lan
Hao Yu

Frontiers in Neurology

doi 10.3389/fneur.2025.1691759

857 views

Review

Published on 22 Sep 2025

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease

in Neurogenetics

Omar Shennib
Olivia Raines
Amanda Sandoval Karamian
Megan E. Williams

Frontiers in Neurology

doi 10.3389/fneur.2025.1662931

1,777 views

Original Research

Accepted on 16 Sep 2025

The Genotypic and Family Characteristics and Clinical Intervention of Neurofibromatosis type 1 Gene Are associated With Dystrophic Scoliosis by Whole-Exome Sequencing

in Neurogenetics

Yukun Du
Tianyu Bai
Jie Song
Li Zhang
Hui Huang
Peng Han
Fangfang Gai
Jianwei Guo
Jianyi Li
Changlin Lv

Frontiers in Neurology

doi 10.3389/fneur.2025.1641665

1,323 views

Review

Published on 12 Sep 2025

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL

in Neurogenetics

Yuehui Wang
Yiran Liu
Hongbin Mo
Yue Han
Yuanyuan Jing
Fang Deng

Frontiers in Neurology

doi 10.3389/fneur.2025.1662012

1,857 views

Original Research

Published on 10 Sep 2025

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization

in Neurogenetics

Shanshan Wei
Zhe Zhao
Nan Li
Xuan Guo
Jiannan Chen
Jing Hu

Frontiers in Neurology

doi 10.3389/fneur.2025.1661707

1,502 views

Original Research

Accepted on 02 Sep 2025

Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study

in Neurogenetics

Qiuyu Wei
Shaoyong Yu
Yi Luo
Xinghui Song
Pin Qin
Rongji Li
Weichao Sun
Gang Wu

Frontiers in Neurology

doi 10.3389/fneur.2025.1575941

959 views

Review

Published on 02 Sep 2025

Riboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies

in Neurogenetics

Zhiming Tao
Jinglu Huo
Xiaosheng Hao
Jianmin Liang

Frontiers in Neurology

doi 10.3389/fneur.2025.1663136

2,279 views

Original Research

Published on 01 Sep 2025

Whole mitochondrial genome sequencing in individuals with Leber hereditary optic neuropathy negative for the common pathogenic mitochondrial DNA variants

in Neurogenetics

Sundaramurthy Srilekha
Selvakumar Ambika
Nagarajan Hemavathy
Dharani Vidhya
Patrick Yu-Wai-Man

Frontiers in Neurology

doi 10.3389/fneur.2025.1584748

1,268 views

Brief Research Report

Published on 22 Aug 2025

Novel loss-of-function mutations in VPS13A cause chorea-acanthocytosis in two families

in Neurogenetics

Xiao-Hong Lin
Bin Xiao
Ru-Kai Chen
Jia-Ying Chen
Nai-Qing Cai
Chun-Yan Cao
Li-Qiong Zhan

Frontiers in Neurology

doi 10.3389/fneur.2025.1643889

1,097 views

Methods

Published on 23 Jul 2025

Knowledge mapping of exosomes in ischemic stroke: a bibliometric analysis

in Neurogenetics

Xiaofang Ding
Guoying Zou
Nuoya Ma
Xudong Tang
Jia Zhou

Frontiers in Neurology

doi 10.3389/fneur.2025.1595379

1,427 views

Original Research

Published on 18 Jul 2025

Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy

in Neurogenetics

John Sieh Dumbuya
Chuan Tian
Lin Deng
Bashir Ahmad
Xiuling Chen
Jun Lu

Frontiers in Neurology

doi 10.3389/fneur.2025.1585906

948 views

Original Research

Published on 25 Jun 2025

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia

in Neurogenetics

Liqi Guo
Fangrui Wu
Yuxi Wang
Xiaoping Xiong
Min Zhong

Frontiers in Neurology

doi 10.3389/fneur.2025.1595505

1,426 views

Original Research

Published on 27 May 2025

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis

in Neurogenetics

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

Frontiers in Neurology

doi 10.3389/fneur.2025.1566740

1,046 views

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

2,121 views
1 citation