Frontiers in Neurology | Neurogenetics

Original Research

Published on 17 Nov 2022

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

in Neurogenetics

Jia Chen
Junfang Xiao
Ge Chen
Qiang Xu
Xingwu Wu
Lifeng Tian
Zhihui Huang
Cailin Xin
Yan Zhao
Zhen Guo

Frontiers in Neurology

doi 10.3389/fneur.2022.988519

3,992 views
4 citations

Brief Research Report

Published on 14 Nov 2022

A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

in Neurogenetics

Haitian Nan
Min Chu
Li Liu
Kexin Xie
Liyong Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.1005544

3,034 views
3 citations

Case Report

Published on 08 Nov 2022

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

in Neurogenetics

Margarita Sharova
Mikhail Skoblov
Elena Dadali
Nina Demina
Olga Shchagina
Fedor Konovalov
Maria Ampleeva
Inna Sharkova
Sergey Kutsev

Frontiers in Neurology

doi 10.3389/fneur.2022.1008937

2,818 views
6 citations

Case Report

Published on 21 Oct 2022

Case report: Ventricular primary central nervous system lymphoma with partial hypointensity on diffusion-weighted imaging

in Neurogenetics

Xintong Li
Hua Xiong

Frontiers in Neurology

doi 10.3389/fneur.2022.923206

3,942 views
1 citation

Case Report

Published on 21 Oct 2022

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report

in Neurogenetics

Yu Wang
Su-yue Wang
Kai Li
Yu-long Zhu
Kun Xia
Dan-dan Sun
Wen-long Ai
Xiao-ming Fu
Qun-rong Ye
Jun Li

Frontiers in Neurology

doi 10.3389/fneur.2022.1010150

5,312 views
6 citations

Case Report

Published on 20 Oct 2022

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

in Neurogenetics

Ethiraj Ravindran
Noor Ullah
Shyamala Mani
Elaine Guo Yan Chew
Moses Tandiono
Jia Nee Foo
Chiea Chuen Khor
Angela M. Kaindl
Saima Siddiqi

Frontiers in Neurology

doi 10.3389/fneur.2022.1017654

3,362 views
2 citations

Case Report

Published on 17 Oct 2022

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

in Neurogenetics

Sarah Alsubhi
Bradley Osterman
Nicolas Chrestian
François Dubeau
Daniela Buhas
Myriam Srour

Frontiers in Neurology

doi 10.3389/fneur.2022.913652

4,299 views
4 citations

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

3,803 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

4,033 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

3,211 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

4,309 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

7,741 views
23 citations

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

4,660 views
5 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

3,174 views
1 citation

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

6,541 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

3,911 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

5,148 views
11 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

12,049 views
45 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

4,778 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

2,362 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

5,688 views
15 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

8,011 views
14 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

4,859 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

7,243 views
12 citations

344 articles

articles

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

Case report: Ventricular primary central nervous system lymphoma with partial hypointensity on diffusion-weighted imaging

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

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

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

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