Original Research

Published on 17 May 2023

Language dysfunction correlates with cognitive impairments in older adults without dementia mediated by amyloid pathology

in Neurogenetics

Chunchen Xiang
Weiping Ai
Yumei Zhang
Alzheimer's Disease Neuroimaging Initiative

Frontiers in Neurology

doi 10.3389/fneur.2023.1051382

1,937 views
1 citation

Case Report

Published on 12 May 2023

Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report

in Neurogenetics

Ana Karina Zambrano
Elius Paz-Cruz
Santiago Cadena-Ullauri
Patricia Guevara-Ramírez
Viviana A. Ruiz-Pozo
Rafael Tamayo-Trujillo
Rita Ibarra-Castillo
José Luis Laso-Bayas
Nieves Doménech
Adriana Alexandra Ibarra-Rodríguez

Frontiers in Neurology

doi 10.3389/fneur.2023.1183147

2,441 views
1 citation

Brief Research Report

Published on 05 May 2023

Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review

in Neurogenetics

Yan Dong
Ruofei Lian
Liang Jin
Shichao Zhao
Wenpeng Tao
Lijun Wang
Mengchun Li
Tianming Jia
Xuejing Chen
Shushi Cao

Frontiers in Neurology

doi 10.3389/fneur.2023.1152696

2,840 views
1 citation

Original Research

Published on 05 May 2023

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction

in Neurogenetics

Omri Bar
Laurie Ebenau
Kellee Weiner
Mark Mintz
Richard G. Boles

Frontiers in Neurology

doi 10.3389/fneur.2023.1151835

7,581 views
11 citations

Original Research

Published on 20 Apr 2023

Genetic variations in the retrograde endocannabinoid signaling pathway in Chinese patients with major depressive disorder

in Neurogenetics

Huifang Xu
Tongtong Li
Qiyong Gong
Haizhen Xu
Yongbo Hu
Wenqi Lü
Xin Yang
Jin Li
Wenming Xu
Weihong Kuang

Frontiers in Neurology

doi 10.3389/fneur.2023.1153509

2,097 views
2 citations

Case Report

Published on 17 Apr 2023

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

in Neurogenetics

Siqi Dong
Ya Tuo
Zihan Qi
Yuanfeng Zhang
Xiaoni Liu
Ping Huang
Xiangjun Chen

Frontiers in Neurology

doi 10.3389/fneur.2023.1118076

1,580 views

Case Report

Published on 11 Apr 2023

Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report

in Neurogenetics

Kenny V. Onate-Quiroz
Benjamin Udoka Nwosu
Parissa Salemi

Frontiers in Neurology

doi 10.3389/fneur.2023.1104649

1,398 views

Original Research

Published on 05 Apr 2023

Investigation of shared genes and regulatory mechanisms associated with coronavirus disease 2019 and ischemic stroke

in Neurogenetics

Hao Wu
Fei Han

Frontiers in Neurology

doi 10.3389/fneur.2023.1151946

1,666 views
2 citations

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

3,672 views
6 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

3,628 views
2 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

2,574 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

1,902 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

2,631 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

2,200 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

1,828 views

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

2,851 views
3 citations

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Articles

Language dysfunction correlates with cognitive impairments in older adults without dementia mediated by amyloid pathology

Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report

Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction

Genetic variations in the retrograde endocannabinoid signaling pathway in Chinese patients with major depressive disorder

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report

Investigation of shared genes and regulatory mechanisms associated with coronavirus disease 2019 and ischemic stroke

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