Frontiers in Neurology | Neurogenetics

Original Research

Published on 03 Apr 2023

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

in Neurogenetics

Stefanie Perrier
Kether Guerrero
Luan T. Tran
Mackenzie A. Michell-Robinson
Geneviève Legault
Bernard Brais
Michel Sylvain
James Dorman
Michelle Demos
Wolfgang Köhler

Frontiers in Neurology

doi 10.3389/fneur.2023.1148377

5,965 views
5 citations

Case Report

Published on 03 Apr 2023

Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report

in Neurogenetics

Ping Jin
Yu Wang
Na Nian
Gong-Qiang Wang
Xiao-Ming Fu

Frontiers in Neurology

doi 10.3389/fneur.2023.1156100

4,357 views
3 citations

Original Research

Published on 09 Mar 2023

Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy

in Neurogenetics

Wenjuan Zhou
Yuzhen Ouyang
Yuqiao Ji
Qiong Xi
Lingling Zhao

Frontiers in Neurology

doi 10.3389/fneur.2023.1107904

3,628 views
4 citations

Original Research

Published on 28 Feb 2023

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

in Neurogenetics

Raoli He
Jian Zhang
Tianwen Huang
Guoen Cai
Zhangyu Zou
Qinyong Ye

Frontiers in Neurology

doi 10.3389/fneur.2023.1126729

4,523 views

Original Research

Published on 24 Feb 2023

Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population

in Neurogenetics

Jiabin Liu
Juanjuan Huang
Yuwen Zhao
Hongxu Pan
Yige Wang
Zhenhua Liu
Qian Xu
Qiying Sun
Jieqiong Tan
Xinxiang Yan

Frontiers in Neurology

doi 10.3389/fneur.2023.1133449

3,659 views
1 citation

Case Report

Published on 21 Feb 2023

Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs*6)

in Neurogenetics

Friederike Ufer
Susanne M. Ziegler
Marcus Altfeld
Manuel A. Friese

Frontiers in Neurology

doi 10.3389/fneur.2023.1118369

3,184 views
3 citations

Case Report

Published on 16 Feb 2023

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review

in Neurogenetics

Xin Zhang
Juan Gao
Chunling Chi
Zhenzhen Zhao
Piu Chan
Jinghong Ma

Frontiers in Neurology

doi 10.3389/fneur.2023.1086264

4,826 views
12 citations

Brief Research Report

Published on 09 Feb 2023

Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree

in Neurogenetics

Teodor Angelov
Teodora Chamova
Slavena Atemin
Tihomir Todorov
Slavko Ormandzhiev
Ivan Tourtourikov
Albena Todorova
David Devos
Ivailo Tournev

Frontiers in Neurology

doi 10.3389/fneur.2023.1094234

2,358 views
1 citation

Case Report

Published on 09 Feb 2023

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

in Neurogenetics

Ethiraj Ravindran
Gaetan Lesca
Louis Januel
Linus Goldgruber
Achim Dickmanns
Henri Margot
Angela M. Kaindl

Frontiers in Neurology

doi 10.3389/fneur.2023.1124886

3,886 views
10 citations

Case Report

Published on 07 Feb 2023

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

in Neurogenetics

Emanuela Salzano
Marcello Niceta
Simone Pizzi
Francesca Clementina Radio
Martina Busè
Francesca Mercadante
Sabina Barresi
Arturo Ferrara
Cecilia Mancini
Marco Tartaglia

Frontiers in Neurology

doi 10.3389/fneur.2023.1090082

2,753 views
5 citations

Case Report

Published on 02 Feb 2023

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review

in Neurogenetics

Tingwei Song
Yuwen Zhao
Guo Wen
Juan Du
Qian Xu

Frontiers in Neurology

doi 10.3389/fneur.2023.1110227

3,489 views
4 citations

Case Report

Published on 27 Jan 2023

A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report

in Neurogenetics

Maohua Li
Jiandi Huang
Min Liu
Chunmei Duan
Hong Guo
Xiaoyan Chen
Yue Wang

Frontiers in Neurology

doi 10.3389/fneur.2023.1063090

4,400 views
3 citations

Original Research

Published on 23 Jan 2023

Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy

in Neurogenetics

Wen-Zheng Hu
Ling-Xiao Cao
Jin-Hui Yin
Xue-Song Zhao
Ying-Shan Piao
Wei-Hong Gu
Jing-Hong Ma
Zhi-Rong Wan
Yue Huang

Frontiers in Neurology

doi 10.3389/fneur.2022.1081219

5,709 views
11 citations

Original Research

Published on 20 Jan 2023

Association of BDNF gene missense polymorphism rs6265 (Val66Met) with three quantitative traits, namely, intelligence quotient, body mass index, and blood pressure: A genetic association analysis from North India

in Neurogenetics

Rafat Fatma
Waseem Chauhan
Mehdi Hayat Shahi
Mohammad Afzal

Frontiers in Neurology

doi 10.3389/fneur.2022.1035885

6,076 views
11 citations

Original Research

Published on 09 Jan 2023

Variability in oxidative stress-related genes (SOD2, CAT, GPX1, GSTP1, NOS3, NFE2L2, and UCP2) and susceptibility to migraine clinical phenotypes and features

in Neurogenetics

Maria Papasavva
Michail Vikelis
Vasileios Siokas
Martha-Spyridoula Katsarou
Emmanouil V. Dermitzakis
Athanasios Raptis
Aikaterini Kalliantasi
Efthimios Dardiotis
Nikolaos Drakoulis

Frontiers in Neurology

doi 10.3389/fneur.2022.1054333

5,704 views
21 citations

Original Research

Published on 09 Jan 2023

Novel heterozygous mutation in alpha-2-macroglobulin (A2M) suppressing the binding of amyloid-β (Aβ)

in Neurogenetics

Guozhen Qiu
Liming Cao
Yong-Jun Chen

Frontiers in Neurology

doi 10.3389/fneur.2022.1090900

4,144 views
9 citations

Case Report

Published on 22 Dec 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

in Neurogenetics

Weijie Chen
Yuanyuan Wang
Shengwen Huang
Xiaoli Yang
Liwei Shen
Danhong Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.1069453

5,143 views

Case Report

Published on 22 Dec 2022

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma

in Neurogenetics

Zongzhi Jiang
Yuxin Fu
Xiaojing Wei
Ziyi Wang
Xuefan Yu

Frontiers in Neurology

doi 10.3389/fneur.2022.1010636

3,175 views
3 citations

Original Research

Published on 21 Dec 2022

The SFT2D2 gene is associated with the autoimmune pathology of schizophrenia in a Chinese population

in Neurogenetics

Duilin Liu
Lin Wu
Hui Wei
Caiyun Zhu
Runhui Tian
Wanwan Zhu
Qi Xu

Frontiers in Neurology

doi 10.3389/fneur.2022.1037777

2,645 views
6 citations

Case Report

Published on 19 Dec 2022

Case report: Alexander's disease with “head drop” as the main symptom and literature review

in Neurogenetics

Yujun Yuan
Qiong Wu
Liang Huo
Hua Wang
Xueyan Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.1002527

4,975 views

Brief Research Report

Published on 09 Dec 2022

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort

in Neurogenetics

Ting-Wei Liao
Chih-Ying Chao
Yih-Ru Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.1090406

3,136 views
3 citations

Original Research

Published on 07 Dec 2022

Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study

in Neurogenetics

Yue Yang
Wenjie Hao
Taohua Wei
LuLu Tang
Nannan Qian
Yulong Yang
Hu Xi
Shijie Zhang
Wenming Yang

Frontiers in Neurology

doi 10.3389/fneur.2022.1058642

12,274 views
11 citations

Review

Published on 23 Nov 2022

Newborn screening and gene therapy in SMA: Challenges related to vaccinations

in Neurogenetics

Katarzyna Kotulska
Sergiusz Jozwiak
Maria Jedrzejowska
Monika Gos
Magdalena Ogrodnik
Jacek Wysocki
Hanna Czajka
Ernest Kuchar

Frontiers in Neurology

doi 10.3389/fneur.2022.890860

6,880 views
9 citations

Original Research

Published on 18 Nov 2022

A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy

in Neurogenetics

Wenqiao Wang
Yijie Feng
Qi Long
Fei Chen
Yuzhi Chen
Ming Ma
Shanshan Mao

Frontiers in Neurology

doi 10.3389/fneur.2022.1034894

5,624 views
11 citations

344 articles

articles

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report

Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population

Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs*6)

An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review

Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review

A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report

Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy

Association of BDNF gene missense polymorphism rs6265 (Val66Met) with three quantitative traits, namely, intelligence quotient, body mass index, and blood pressure: A genetic association analysis from North India

Variability in oxidative stress-related genes (SOD2, CAT, GPX1, GSTP1, NOS3, NFE2L2, and UCP2) and susceptibility to migraine clinical phenotypes and features

Novel heterozygous mutation in alpha-2-macroglobulin (A2M) suppressing the binding of amyloid-β (Aβ)

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma

The SFT2D2 gene is associated with the autoimmune pathology of schizophrenia in a Chinese population

Case report: Alexander's disease with “head drop” as the main symptom and literature review

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort

Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study

Newborn screening and gene therapy in SMA: Challenges related to vaccinations

A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy