Frontiers in Neurology | Neurogenetics

Case Report

Published on 03 Apr 2023

Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family

in Neurogenetics

Jolien Perneel
Masood Manoochehri
Edward D. Huey
Rosa Rademakers
Jill Goldman

Frontiers in Neurology

doi 10.3389/fneur.2023.1160248

4,143 views
8 citations

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

4,098 views
3 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

2,867 views
2 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

2,117 views
3 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

2,954 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

2,398 views

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

2,044 views
1 citation

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

3,313 views
4 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

1,701 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

2,729 views
7 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

1,698 views
2 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

2,304 views
2 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

2,811 views
1 citation

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

3,652 views
4 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

3,385 views
6 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

3,498 views
9 citations

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Articles

Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family

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