Frontiers in Neurology | Neurogenetics

Original Research

Published on 19 Jun 2024

Causal relationship of interferon-γ and interleukin-18 upstream of intervertebral disc degeneration pathogenesis: a two-sample Mendelian randomization study

in Neurogenetics

Fang Gao
Chen Deng
Zhiqiang Wang
Beiyang Wang
Junqiao Lv
Lin Sun

Frontiers in Neurology

doi 10.3389/fneur.2024.1420942

1,266 views
1 citation

Mini Review

Published on 17 Jun 2024

Case report: Cerebrotendinous xanthomatosis treatment follow-up

in Neurogenetics

Karolina Ejsmont-Sowała
Tomasz Książek
Katarzyna Maciorowska-Rosłan
Joanna Rosłan
Agata Czarnowska
Anna Jakubiuk-Tomaszuk
Joanna Tarasiuk
Katarzyna Kapica-Topczewska
Alina Kułakowska

Frontiers in Neurology

doi 10.3389/fneur.2024.1409138

1,660 views
1 citation

Case Report

Published on 12 Jun 2024

Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage

in Neurogenetics

Mengying Wang
Huimin Li
Qing Zhou
Qin Zhao
Man Wang
Yumei Geng
Huicong Kang

Frontiers in Neurology

doi 10.3389/fneur.2024.1352467

1,234 views

Original Research

Published on 07 Jun 2024

Patisiran for the treatment of patients with p.Ile88Leu hereditary transthyretin amyloidosis: an Italian real-life experience

in Neurogenetics

Giacomo Urbinati
Ilaria Cani
Marco Currò Dossi
Simone Longhi
Samuela Carigi
Christian Gagliardi
Elena Biagini
Nazzareno Galiè
Pietro Cortelli
Pietro Guaraldi

Frontiers in Neurology

doi 10.3389/fneur.2024.1415851

1,068 views
1 citation

Original Research

Published on 04 Jun 2024

Early sexual activity lowers the incidence of intracranial aneurysm: a Mendelian randomization investigation

in Neurogenetics

Pengfei Wu
Paziliya Akram
Kaheerman Kadeer
Maimaitili Aisha
Xiaojiang Cheng
Zengliang Wang
Aierpati Maimaiti

Frontiers in Neurology

doi 10.3389/fneur.2024.1349137

1,694 views

Case Report

Published on 31 May 2024

Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia

in Neurogenetics

Nihel Ammous-Boukhris
Rania Abdelmaksoud-Dammak
Dorra Ben Ayed-Guerfali
Souhir Guidara
Olfa Jallouli
Hassen Kamoun
Chahnez Charfi Triki
Raja Mokdad-Gargouri

Frontiers in Neurology

doi 10.3389/fneur.2024.1344018

1,103 views

Case Report

Published on 30 May 2024

Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1

in Neurogenetics

Chaoai Zhou
Zefu Chen
Qiqing Chen
Xiaowei Feng

Frontiers in Neurology

doi 10.3389/fneur.2024.1289625

1,065 views

Original Research

Published on 24 May 2024

The role of digestive system diseases in cerebrovascular disease: a comprehensive Mendelian randomization study

in Neurogenetics

Hao Qin
Shihuan Suo
Fan Yang
Pengfei Hao
Xianfeng Zhang

Frontiers in Neurology

doi 10.3389/fneur.2024.1389352

2,034 views

Brief Research Report

Published on 15 May 2024

Alzheimer’s disease and oral manifestations: a bi-directional Mendelian randomization study

in Neurogenetics

Jingxuan Huang
Aiping Deng
Yunshuang Bai
Chunyu Li
Huifang Shang

Frontiers in Neurology

doi 10.3389/fneur.2024.1391625

2,396 views

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

1,957 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

1,689 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

1,452 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

1,904 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

1,305 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

1,443 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

1,571 views