Original Research

Published on 09 May 2024

Association between human blood metabolites and cerebral cortex architecture: evidence from a Mendelian randomization study

in Neurogenetics

Zongzhi Jiang
Yining Sun
Songyan Liu

Frontiers in Neurology

doi 10.3389/fneur.2024.1386844

1,579 views

Original Research

Published on 19 Apr 2024

A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy

in Neurogenetics

Hang Li
Qijun Li
Qin Weng
Ruixue Cui
Tzu-Chen Yen
Yanfeng Li

Frontiers in Neurology

doi 10.3389/fneur.2024.1372507

1,229 views

Case Report

Published on 18 Apr 2024

A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review

in Neurogenetics

Dapeng Cai
Haohao Wu
Baogang Huang
Weiwei Xiao
Kang Du

Frontiers in Neurology

doi 10.3389/fneur.2024.1349861

1,008 views

Case Report

Published on 15 Apr 2024

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

in Neurogenetics

Vanessa I. Romero
Samantha Sáenz
Benjamín Arias-Almeida
Daniela DiCapua
Kazuyoshi Hosomichi

Frontiers in Neurology

doi 10.3389/fneur.2024.1376643

1,420 views

Case Report

Published on 08 Apr 2024

Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs

in Neurogenetics

Glaucia Suzanna Jong-A-Liem
Talita Helena Martins Sarti
Mariusi Glasenapp dos Santos
Luciano Marcus Tirotti Giacon
Raphael Wuo-Silva
Alex Machado Baeta
José Maria de Campos Filho
Feres Chaddad-Neto

Frontiers in Neurology

doi 10.3389/fneur.2024.1347289

950 views

Brief Research Report

Published on 21 Mar 2024

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript

in Neurogenetics

Haizhu Chen
Ying Zheng
Hua Wu
Naiqing Cai
Guorong Xu
Yi Lin
Jin-Jing Li

Frontiers in Neurology

doi 10.3389/fneur.2024.1341864

1,052 views

Case Report

Published on 20 Mar 2024

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

in Neurogenetics

Carmela Romano
Emanuele Morena
Simona Petrucci
Selene Diamant
Martina Marconi
Lorena Travaglini
Ginevra Zanni
Maria Piane
Marco Salvetti
Silvia Romano

Frontiers in Neurology

doi 10.3389/fneur.2024.1362013

1,169 views

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

1,180 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

914 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

1,640 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

1,377 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

682 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

1,690 views

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

1,766 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

1,143 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

1,392 views

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Articles

Association between human blood metabolites and cerebral cortex architecture: evidence from a Mendelian randomization study

A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy

A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review

AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

Case report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

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

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

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

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

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

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

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

Editorial: Genetic research into neurodegenerative disorders

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