Frontiers in Neurology | Neurogenetics

Original Research

Published on 14 Mar 2024

POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience

in Neurogenetics

Jing Liu
Yue Niu
Jiong Qin
Zhixian Yang

Frontiers in Neurology

doi 10.3389/fneur.2024.1355484

1,589 views
1 citation

Case Report

Published on 28 Feb 2024

Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

in Neurogenetics

Gao-Hui Cao
Mei-Fang Zhao
Yi Dong
Liang-Liang Fan
Yi-Hui Liu
Yao Deng
Lu-Lu Tang

Frontiers in Neurology

doi 10.3389/fneur.2024.1319962

1,208 views

Original Research

Published on 14 Feb 2024

Causal association between depression and intracranial aneurysms: a bidirectional two-sample Mendelian randomization study

in Neurogenetics

Jujiang Wu
Hao Sun
Junqiang Ma

Frontiers in Neurology

doi 10.3389/fneur.2024.1346703

1,936 views
2 citations

Case Report

Published on 06 Feb 2024

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation

in Neurogenetics

Hui Zhang
Li Jiang
Yuqi Xian
Sen Yang

Frontiers in Neurology

doi 10.3389/fneur.2024.1339642

1,860 views
1 citation

Correction

Published on 05 Feb 2024

Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

in Neurogenetics

Giovanna Scorrano
Laura Battaglia
Rossana Spiaggia
Antonio Basile
Stefano Palmucci
Pietro Valerio Foti
Emanuele David
Franco Marinangeli
Ilaria Mascilini
Antonio Corsello

Frontiers in Neurology

doi 10.3389/fneur.2024.1360347

796 views
1 citation

Case Report

Published on 01 Feb 2024

Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

in Neurogenetics

Jieni Jiang
Xiaotang Cai
Haibo Qu
Qiang Yao
Tiantian He
Mei Yang
Hui Zhou
Xuemei Zhang

Frontiers in Neurology

doi 10.3389/fneur.2024.1258831

2,095 views
1 citation

Original Research

Published on 31 Jan 2024

Assessing the impact of novel risk loci on Alzheimer’s and Parkinson’s diseases in a Chinese Han cohort

in Neurogenetics

Huimin Yan
Minglei Liu
Yuan Gao
Yanpeng Yuan
Xiaojing Liu
Yangyang Wang
Lanjun Li
Qingzhi Wang
Yanlin Wang
Changhe Shi

Frontiers in Neurology

doi 10.3389/fneur.2024.1326692

2,149 views
2 citations

Editorial

Published on 29 Jan 2024

Editorial: Genetic research into neurodegenerative disorders

in Neurogenetics

Xiaoting Zheng
Jianhai Chen
Chunyu Li

Frontiers in Neurology

doi 10.3389/fneur.2024.1367627

1,304 views

Case Report

Published on 24 Jan 2024

The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report

in Neurogenetics

Anna Ying
Yuanlin Zhou
Chunyue Wang
Tao Wang
Xuan Zhang
Shanshan Wang
Shaofa Ke
Yuyan Bao
Yang Liu
Feng Wang

Frontiers in Neurology

doi 10.3389/fneur.2024.1272802

1,809 views

Case Report

Published on 24 Jan 2024

A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review

in Neurogenetics

Siyuan Jing
Mou Peng
Yuping He
Yimin Hua
Jinrong Li
Yifei Li

Frontiers in Neurology

doi 10.3389/fneur.2024.1343025

1,589 views
2 citations

Original Research

Published on 12 Jan 2024

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

in Neurogenetics

Magdalena Badura-Stronka
Katarzyna Wołyńska
Anna Winczewska-Wiktor
Justyna Marcinkowska
Dagmara Karolewska
Danuta Tomkowiak-Kędzia
Michał Piechota
Marta Przyborska
Natalia Kochalska
Barbara Steinborn

Frontiers in Neurology

doi 10.3389/fneur.2023.1316933

3,161 views
1 citation

Review

Published on 05 Jan 2024

ATP13A2 (PARK9) and basal ganglia function

in Neurogenetics

Kristina M. Croucher
Sheila M. Fleming

Frontiers in Neurology

doi 10.3389/fneur.2023.1252400

4,652 views
4 citations

Mini Review

Published on 21 Dec 2023

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

in Neurogenetics

Giovanna Scorrano
Laura Battaglia
Rossana Spiaggia
Antonio Basile
Stefano Palmucci
Pietro Valerio Foti
Emanuele David
Franco Marinangeli
Ilaria Mascilini
Antonio Corsello

Frontiers in Neurology

doi 10.3389/fneur.2023.1301147

3,177 views
3 citations

Original Research

Published on 14 Dec 2023

The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study

in Neurogenetics

Benjamin C. Cox
Jennifer Y. Pearson
Jay Mandrekar
Ralitza H. Gavrilova

Frontiers in Neurology

doi 10.3389/fneur.2023.1298569

3,975 views
2 citations

Case Report

Published on 12 Dec 2023

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report

in Neurogenetics

Miao Sun
Yingjie Dai

Frontiers in Neurology

doi 10.3389/fneur.2023.1308289

1,997 views
1 citation

Original Research

Published on 07 Dec 2023

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

in Neurogenetics

Rosangela Ferese
Simona Scala
Antonio Suppa
Rosa Campopiano
Francesco Asci
Alessandro Zampogna
Maria Antonietta Chiaravalloti
Annamaria Griguoli
Marianna Storto
Alba Di Pardo

Frontiers in Neurology

doi 10.3389/fneur.2023.1296924

1,991 views
1 citation