Frontiers in Neurology | Neurogenetics

Original Research

Published on 06 May 2022

The Clinical and Polynucleotide Repeat Expansion Analysis of ATXN2, NOP56, AR and C9orf72 in Patients With ALS From Mainland China

in Neurogenetics

Xiaorong Hou
Wanzhen Li
Pan Liu
Zhen Liu
Yanchun Yuan
Jie Ni
Lu Shen
Beisha Tang
Junling Wang

Frontiers in Neurology

doi 10.3389/fneur.2022.811202

3,398 views
5 citations

Original Research

Published on 28 Apr 2022

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia

in Neurogenetics

Yuzhi Shi
An Wang
Bin Chen
Xingao Wang
Songtao Niu
Wei Li
Shaowu Li
Zaiqiang Zhang

Frontiers in Neurology

doi 10.3389/fneur.2022.872927

4,701 views
11 citations

Original Research

Published on 18 Apr 2022

Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel MBOAT7 Variant in Patients With Intellectual Disability

in Neurogenetics

Jiwon Lee
Amen Shamim
Jongho Park
Ja-Hyun Jang
Ji Hye Kim
Jeong-Yi Kwon
Jong-Won Kim
Kyeong Kyu Kim
Jeehun Lee

Frontiers in Neurology

doi 10.3389/fneur.2022.836954

3,154 views
13 citations

Original Research

Published on 08 Apr 2022

Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria

in Neurogenetics

Teodora Chamova
Mariana Gospodinova
Ognian Asenov
Tihomir Todorov
Zornitsa Pavlova
Andrey Kirov
Sylvia Cherninkova
Kristina Kastreva
Ani Taneva
Stanislava Blagoeva

Frontiers in Neurology

doi 10.3389/fneur.2022.844595

3,836 views
4 citations

Case Report

Published on 04 Apr 2022

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

in Neurogenetics

Wenyu Liu
Ming Liu
Di Lu
Jiwei Wang
Zexin Cao
Xuchen Liu
Zichao Feng
Bin Huang
Xinyu Wang

Frontiers in Neurology

doi 10.3389/fneur.2022.795514

3,157 views
3 citations

Case Report

Published on 25 Mar 2022

Case Report: Late-Onset Mitochondrial Disease Uncovered by Metformin Use in a Patient With Acute Verbal Auditory Agnosia

in Neurogenetics

Wei-Hao Lin
I-Hsiao Yang
Hui-En Cheng
Hsiu-Fen Lin

Frontiers in Neurology

doi 10.3389/fneur.2022.863047

5,337 views
12 citations

Case Report

Published on 21 Mar 2022

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature

in Neurogenetics

Yuchao Chen
Xiaodong Lu
Yi Jin
Dan Li
Xiaojun Ye
Chenjuan Tao
Menglu Zhou
Haibo Jiang
Hao Yu

Frontiers in Neurology

doi 10.3389/fneur.2022.845318

2,712 views
2 citations

Original Research

Published on 10 Mar 2022

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

in Neurogenetics

Chaseley E. Mckenzie
Chen-Jui Ho
Ian C. Forster
Ming S. Soh
A. Marie Phillips
Ying-Chao Chang
Ingrid E. Scheffer
Christopher A. Reid
Meng-Han Tsai

Frontiers in Neurology

doi 10.3389/fneur.2022.834252

2,738 views
8 citations

Case Report

Published on 11 Feb 2022

Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2

in Neurogenetics

Aijun Lu
Chunxia Dong
Bihong Chen
Lei Xie
Huaiqiang Hu

Frontiers in Neurology

doi 10.3389/fneur.2022.807291

3,549 views
12 citations

Brief Research Report

Published on 28 Jan 2022

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

in Neurogenetics

Yongzhi Xie
Zhiqiang Lin
Xiaobo Li
Lei Liu
Shunxiang Huang
Huadong Zhao
Binghao Wang
Wanqian Cao
Zhengmao Hu
Jifeng Guo

Frontiers in Neurology

doi 10.3389/fneur.2021.736704

3,819 views
5 citations

Case Report

Published on 14 Jan 2022

Case Report: Novel SLC9A6 Splicing Variant in a Chinese Boy With Christianson Syndrome With Electrical Status Epilepticus During Sleep

in Neurogenetics

Xiaorui Liu
Lingling Xie
Zhixu Fang
Li Jiang

Frontiers in Neurology

doi 10.3389/fneur.2021.796283

2,754 views
3 citations

Original Research

Published on 06 Jan 2022

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

in Neurogenetics

Lorenzo Nanetti
Daniela Di Bella
Stefania Magri
Mario Fichera
Elisa Sarto
Anna Castaldo
Alessia Mongelli
Silvia Baratta
Silvia Fenu
Marco Moscatelli

Frontiers in Neurology

doi 10.3389/fneur.2021.793547

4,149 views
9 citations

Original Research

Published on 17 Dec 2021

Genome-Wide Association Study of 2,093 Cases With Idiopathic Polyneuropathy and 445,256 Controls Identifies First Susceptibility Loci

in Neurogenetics

Bendik S. Winsvold
Ioannis Kitsos
Laurent F. Thomas
Anne Heidi Skogholt
Maiken E. Gabrielsen
John-Anker Zwart
Kristian Bernhard Nilsen

Frontiers in Neurology

doi 10.3389/fneur.2021.789093

4,514 views
6 citations

Original Research

Published on 16 Dec 2021

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family

in Neurogenetics

Liwen Wu
Xiangfu Liao
Sai Yang
Siyi Gan

Frontiers in Neurology

doi 10.3389/fneur.2021.750095

2,851 views
5 citations

Original Research

Published on 10 Dec 2021

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

in Neurogenetics

Ji-Hoon Na
Min Jung Lee
Chul Ho Lee
Young-Mock Lee

Frontiers in Neurology

doi 10.3389/fneur.2021.752467

3,504 views
7 citations

Case Report

Published on 06 Dec 2021

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

in Neurogenetics

Peter Sparber
Svetlana Mikhaylova
Varvara Galkina
Yulia Itkis
Mikhail Skoblov

Frontiers in Neurology

doi 10.3389/fneur.2021.761892

2,334 views
2 citations