Frontiers in Neurology | Neurogenetics

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

2,606 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

1,841 views
1 citation

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

2,345 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

1,412 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

2,402 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

1,552 views
1 citation

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

3,474 views
1 citation

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

2,745 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

4,316 views
4 citations

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

2,842 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

2,461 views
1 citation

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

3,274 views
2 citations

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

2,429 views
1 citation

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

3,468 views
2 citations

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

2,719 views
2 citations

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

3,345 views
3 citations

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

2,566 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

2,215 views
1 citation

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

2,808 views
1 citation

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

2,785 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

1,578 views
1 citation

Original Research

Published on 14 Oct 2024

Potential association between COVID-19 and neurological disorders: analysis of common genes and therapeutics

in Neurogenetics

Wenzhi Chen
Shishi Jiang
Cheng Li
Shu Li
Junling Wang
Renshi Xu

Frontiers in Neurology

doi 10.3389/fneur.2024.1417183

2,928 views
1 citation

Original Research

Published on 04 Oct 2024

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis

in Neurogenetics

Alina Bilyalova
Elena Shagimardanova
Airat Bilyalov
Marina Zaripova
Leyla Shigapova
Guzel Gazizova
Pavel Mazin
Bukina Tatiana
Oleg Gusev

Frontiers in Neurology

doi 10.3389/fneur.2024.1400989

3,585 views

Brief Research Report

Published on 25 Sep 2024

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

in Neurogenetics

Lassana Cissé
Salia Bamba
Seybou H. Diallo
Weizhen Ji
Mohamed Emile Dembélé
Abdoulaye Yalcouyé
Toumany Coulibaly
Ibrahima Traoré
Lauren Jeffries
Salimata Diarra

Frontiers in Neurology

doi 10.3389/fneur.2024.1455467

2,830 views
1 citation

344 articles

articles

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

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

Knowledge mapping of exosomes in ischemic stroke: a bibliometric analysis

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

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

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis

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

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

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

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

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

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

Editorial: Consanguinity and rare genetic neurological diseases

Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability

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

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

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

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

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

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

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

Potential association between COVID-19 and neurological disorders: analysis of common genes and therapeutics

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings