Frontiers in Neurology | Neurogenetics

Case Report

Published on 17 Oct 2022

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy

in Neurogenetics

Bing-lei Wang
Fen-lei Lu
Yu-chen Sun
Hui-juan Wang

Frontiers in Neurology

doi 10.3389/fneur.2022.1011019

3,563 views
3 citations

Original Research

Published on 30 Sep 2022

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement

in Neurogenetics

Min-Yu Lan
Chin-Song Lu
Shey-Lin Wu
Ying-Fa Chen
Yueh-Feng Sung
Min-Chien Tu
Yung-Yee Chang

Frontiers in Neurology

doi 10.3389/fneur.2022.1005670

3,849 views
4 citations

Case Report

Published on 29 Sep 2022

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy

in Neurogenetics

Guilan Chen
Hang Zhou
Yan Lu
You Wang
Yingsi Li
Jiaxin Xue
Ken Cheng
Ruibin Huang
Jin Han

Frontiers in Neurology

doi 10.3389/fneur.2022.992781

2,981 views
4 citations

Case Report

Published on 27 Sep 2022

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature

in Neurogenetics

Yi Jin
Yuchao Chen
Dan Li
Mengqiu Qiu
Menglu Zhou
Zhouyao Hu
Qiusi Cai
Xulin Weng
Xiaodong Lu
Bin Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.967293

4,034 views
2 citations

Systematic Review

Published on 20 Sep 2022

Metagenomics next-generation sequencing for the diagnosis of central nervous system infection: A systematic review and meta-analysis

in Neurogenetics

Chunrun Qu
Yu Chen
Yuzhen Ouyang
Weicheng Huang
Fangkun Liu
Luzhe Yan
Ruoyu Lu
Yu Zeng
Zhixiong Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.989280

7,337 views
23 citations

Case Report

Published on 01 Sep 2022

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

in Neurogenetics

Xuan Wu
Nan Dong
Zhensheng Liu
Tieyu Tang
Meirong Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.873826

3,047 views
1 citation

Case Report

Published on 01 Sep 2022

Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years

in Neurogenetics

Frederik Teicher Kirk
Ditte Emilie Munk
Jakob Ek
Lisbeth Birk Møller
Mette Bendixen Thorup
Erik Hvid Danielsen
Hendrik Vilstrup
Peter Ott
Thomas Damgaard Sandahl

Frontiers in Neurology

doi 10.3389/fneur.2022.957794

4,500 views
5 citations

Original Research

Published on 01 Sep 2022

Lipid-lowering drug targets and Parkinson's disease: A sex-specific Mendelian randomization study

in Neurogenetics

Yangfan Zhao
Sarah A. Gagliano Taliun

Frontiers in Neurology

doi 10.3389/fneur.2022.940118

6,390 views
7 citations

Case Report

Published on 29 Aug 2022

Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations

in Neurogenetics

Yuefang Liu
Zhe Liang
Weili Cai
Qixiang Shao
Qiong Pan

Frontiers in Neurology

doi 10.3389/fneur.2022.948877

3,770 views
6 citations

Case Report

Published on 24 Aug 2022

Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis

in Neurogenetics

Mubalake Yilihamu
Xiaolu Liu
Xiaoxuan Liu
Yong Chen
Dongsheng Fan

Frontiers in Neurology

doi 10.3389/fneur.2022.984866

4,932 views
10 citations

Review

Published on 12 Aug 2022

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

in Neurogenetics

Laura J. Smith
Chiao-Yin Lee
Elisa Menozzi
Anthony H. V. Schapira

Frontiers in Neurology

doi 10.3389/fneur.2022.971252

11,430 views
41 citations

Original Research

Published on 11 Aug 2022

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

in Neurogenetics

Kun Huang
Hui-Qian Duan
Qiu-Xiang Li
Yue-Bei Luo
Fang-Fang Bi
Huan Yang

Frontiers in Neurology

doi 10.3389/fneur.2022.945280

4,526 views
6 citations

Case Report

Published on 11 Aug 2022

Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome

in Neurogenetics

Qiu Yan Zhao
Wen Zhao Zhang
Xue Lian Zhu
Fei Qiao
Li Yuan Jia
Bi Li
Yong Xiao
Han Chen
Yu Zhang
Yun Guo Chen

Frontiers in Neurology

doi 10.3389/fneur.2022.927823

2,266 views

Original Research

Published on 10 Aug 2022

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

in Neurogenetics

Masahiro Ando
Yujiro Higuchi
Junhui H. Yuan
Akiko Yoshimura
Shuntaro Higashi
Mika Takeuchi
Takahiro Hobara
Fumikazu Kojima
Yutaka Noguchi
Jun Takei

Frontiers in Neurology

doi 10.3389/fneur.2022.952493

5,400 views
14 citations

Original Research

Published on 02 Aug 2022

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity

in Neurogenetics

Yue Niu
Pan Gong
Xianru Jiao
Zhao Xu
Yuehua Zhang
Zhixian Yang

Frontiers in Neurology

doi 10.3389/fneur.2022.907228

7,696 views
13 citations

Case Report

Published on 01 Aug 2022

The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature

in Neurogenetics

Ming Gao
Haokun Liu
Qiying Sun
Guang Yang

Frontiers in Neurology

doi 10.3389/fneur.2022.874613

4,690 views
4 citations

Original Research

Published on 26 Jul 2022

Molecular and clinical characteristics of ATP1A3-related diseases

in Neurogenetics

Yinchao Li
Xianyue Liu
Chengzhe Wang
Zhengwei Su
Ke Zhao
Man Yang
Shuda Chen
Liemin Zhou

Frontiers in Neurology

doi 10.3389/fneur.2022.924788

6,906 views
11 citations

Brief Research Report

Published on 25 Jul 2022

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

in Neurogenetics

Yu Tong Huang
Paul S. Giacomini
Rami Massie
Sunita Venkateswaran
Anne-Marie Trudelle
Giulia Fadda
Maryam Sharifian-Dorche
Hayet Boudjani
Laurence Poliquin-Lasnier
Laura Airas

Frontiers in Neurology

doi 10.3389/fneur.2022.928493

4,934 views
5 citations

Original Research

Published on 13 Jul 2022

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

in Neurogenetics

Yalan Wan
Yanyan Jiang
Zhiying Xie
Chen Ling
Kang Du
Ran Li
Yun Yuan
Zhaoxia Wang
Wei Sun
Haiqiang Jin

Frontiers in Neurology

doi 10.3389/fneur.2022.922528

3,853 views
8 citations

Original Research

Published on 06 Jul 2022

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

in Neurogenetics

Yongyi Zou
Haiyan Luo
Huizhen Yuan
Kang Xie
Yan Yang
Shuhui Huang
Bicheng Yang
Yanqiu Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.904027

3,731 views
8 citations

Case Report

Published on 05 Jul 2022

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

in Neurogenetics

Shengnan Wang
Xu Wang
Jianxin Xi
Wenzhuo Yang
Mingqin Zhu

Frontiers in Neurology

doi 10.3389/fneur.2022.935604

7,195 views
3 citations

Original Research

Published on 05 Jul 2022

Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China

in Neurogenetics

Minling Yu
Linxiang Ren
Muxin Zheng
Mingfan Hong
Zhisheng Wei

Frontiers in Neurology

doi 10.3389/fneur.2022.884840

6,473 views
14 citations

Case Report

Published on 16 Jun 2022

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

in Neurogenetics

Fanxin Kong
Haotao Zheng
Xuan Liu
Songjun Lin
Jianjun Wang
Zhouke Guo

Frontiers in Neurology

doi 10.3389/fneur.2022.813032

3,253 views
3 citations

Original Research

Published on 10 Jun 2022

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease

in Neurogenetics

Jaya Bagaria
Yeonsil Moon
Eva Bagyinszky
Kyu Hwan Shim
Seong Soo A. An
SangYun Kim
Seol Heui Han

Frontiers in Neurology

doi 10.3389/fneur.2022.899644

5,451 views
4 citations

337 articles

articles

Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature

Metagenomics next-generation sequencing for the diagnosis of central nervous system infection: A systematic review and meta-analysis

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1

Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years

Lipid-lowering drug targets and Parkinson's disease: A sex-specific Mendelian randomization study

Case report: Phenotype expansion and analysis of TRIO and CNKSR2 variations

Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity

The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature

Molecular and clinical characteristics of ATP1A3-related diseases

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease