Frontiers in Neurology | Neurogenetics

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

1,294 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

1,130 views

Correction

Published on 10 Sep 2024

Corrigendum: Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023

in Neurogenetics

Fei Luo
Yali Ding
Shanyun Zhang
Juanjuan Diao
Bin Yuan

Frontiers in Neurology

doi 10.3389/fneur.2024.1484618

735 views

Original Research

Published on 09 Sep 2024

The Gly103Arg variant in hereditary transthyretin amyloidosis

in Neurogenetics

Yihan Xiong
Gongcheng Qu
Xiaoyu Lu
Xin Chang
Miaoping Zhang
Jiantang Liang
Kexing Lin
Xiaoman Zhao
Xuejun Fu
Ying Huang

Frontiers in Neurology

doi 10.3389/fneur.2024.1471131

1,135 views

Original Research

Published on 12 Aug 2024

Genetic associations between ULK3 and epilepsy: a two-sample Mendelian randomization study

in Neurogenetics

Baolai Liu
Keyi Fan
Xinyi Zheng
Yaochen Zhang
Shangkai Bai
Zhentong Liu
Shuhan Xu
Zhihao Su
Huiting Cao
Heyi Zhang

Frontiers in Neurology

doi 10.3389/fneur.2024.1376314

1,306 views

Original Research

Published on 31 Jul 2024

The impacts of sex and the 5xFAD model of Alzheimer’s disease on the sleep and spatial learning responses to feeding time

in Neurogenetics

Katrina J. Campbell
Peng Jiang
Christopher Olker
Xuanyi Lin
Sarah Y. Kim
Christopher J. Lee
Eun Joo Song
Fred W. Turek
Martha Hotz Vitaterna

Frontiers in Neurology

doi 10.3389/fneur.2024.1430989

1,952 views
1 citation

Original Research

Published on 26 Jul 2024

Association between psychiatric disorders and intracranial aneurysms: evidence from Mendelian randomization analysis

in Neurogenetics

Sichen Bao
Zhenqiu Xing
Shengkai He
Xiaowei Hu
Jianjing Yang
Bingqing Zhou

Frontiers in Neurology

doi 10.3389/fneur.2024.1422984

2,537 views

Original Research

Published on 26 Jul 2024

Frontier and hotspot evolution in cerebrotendinous xanthomatosis: a bibliometric analysis from 1993 to 2023

in Neurogenetics

Fei Luo
Yali Ding
Shanyun Zhang
Juanjuan Diao
Bin Yuan

Frontiers in Neurology

doi 10.3389/fneur.2024.1371375

1,276 views

Original Research

Published on 17 Jul 2024

Causal relationship between mitochondrial-associated proteins and cerebral aneurysms: a Mendelian randomization study

in Neurogenetics

Shuai Wang
Jiajun Wang
Zihui Niu
Kang Zhang
Tao Yang
Shiqiang Hou
Ning Lin

Frontiers in Neurology

doi 10.3389/fneur.2024.1405086

1,658 views
1 citation

Mini Review

Published on 17 Jul 2024

Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature

in Neurogenetics

Hitham Aldharee

Frontiers in Neurology

doi 10.3389/fneur.2024.1392274

2,928 views

Original Research

Published on 11 Jul 2024

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings

in Neurogenetics

Xiaohuan Zhang
Guo Zhang
Li Cao
Wenjing Zhou
Chang Tan
Shi Ma
Jiyun Yang

Frontiers in Neurology

doi 10.3389/fneur.2024.1394150

969 views

Review

Published on 10 Jul 2024

Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease

in Neurogenetics

Si-Si Wang
Zhao-Li Meng
Yi-Wen Zhang
Yi-Shuang Yan
Ling-Bo Li

Frontiers in Neurology

doi 10.3389/fneur.2024.1392984

2,049 views

Original Research

Published on 03 Jul 2024

Association of common genetic variants with chronic axonal polyneuropathy in the general population: a genome-wide association study

in Neurogenetics

Noor E. Taams
Maria J. Knol
Rens Hanewinckel
Judith Drenthen
Mary M. Reilly
Pieter A. van Doorn
Hieab H. H. Adams
M. Arfan Ikram

Frontiers in Neurology

doi 10.3389/fneur.2024.1422824

926 views

Review

Published on 03 Jul 2024

Insights into brain tumor diagnosis: exploring in situ hybridization techniques

in Neurogenetics

E. D. Namiot
G. M. Zembatov
P. P. Tregub

Frontiers in Neurology

doi 10.3389/fneur.2024.1393572

2,577 views
1 citation

Original Research

Published on 01 Jul 2024

ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family

in Neurogenetics

Rui Li
Xuan Liu
Chenming Ke
Fanli Zeng
Qingyi Zeng
Xiaowei Xu
Xiaoqin Fan
Ying Zhang
Qinghua Hou

Frontiers in Neurology

doi 10.3389/fneur.2024.1365787

1,279 views

Original Research

Published on 21 Jun 2024

Genetics of causal relationships between circulating inflammatory proteins and postherpetic neuralgia: a bidirectional Mendelian randomization study

in Neurogenetics

WenHui Liu
HuiMin Hu
Chen Li
YiFan Li
Peng Mao
BiFa Fan

Frontiers in Neurology

doi 10.3389/fneur.2024.1405694

1,841 views