Frontiers in Neurology | Neurogenetics

Brief Research Report

Published on 25 Jul 2022

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

in Neurogenetics

Yu Tong Huang
Paul S. Giacomini
Rami Massie
Sunita Venkateswaran
Anne-Marie Trudelle
Giulia Fadda
Maryam Sharifian-Dorche
Hayet Boudjani
Laurence Poliquin-Lasnier
Laura Airas

Frontiers in Neurology

doi 10.3389/fneur.2022.928493

5,098 views
5 citations

Original Research

Published on 13 Jul 2022

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

in Neurogenetics

Yalan Wan
Yanyan Jiang
Zhiying Xie
Chen Ling
Kang Du
Ran Li
Yun Yuan
Zhaoxia Wang
Wei Sun
Haiqiang Jin

Frontiers in Neurology

doi 10.3389/fneur.2022.922528

3,989 views
8 citations

Original Research

Published on 06 Jul 2022

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

in Neurogenetics

Yongyi Zou
Haiyan Luo
Huizhen Yuan
Kang Xie
Yan Yang
Shuhui Huang
Bicheng Yang
Yanqiu Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.904027

3,943 views
8 citations

Case Report

Published on 05 Jul 2022

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

in Neurogenetics

Shengnan Wang
Xu Wang
Jianxin Xi
Wenzhuo Yang
Mingqin Zhu

Frontiers in Neurology

doi 10.3389/fneur.2022.935604

7,461 views
3 citations

Original Research

Published on 05 Jul 2022

Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China

in Neurogenetics

Minling Yu
Linxiang Ren
Muxin Zheng
Mingfan Hong
Zhisheng Wei

Frontiers in Neurology

doi 10.3389/fneur.2022.884840

6,831 views
15 citations

Case Report

Published on 16 Jun 2022

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

in Neurogenetics

Fanxin Kong
Haotao Zheng
Xuan Liu
Songjun Lin
Jianjun Wang
Zhouke Guo

Frontiers in Neurology

doi 10.3389/fneur.2022.813032

3,391 views
3 citations

Original Research

Published on 10 Jun 2022

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease

in Neurogenetics

Jaya Bagaria
Yeonsil Moon
Eva Bagyinszky
Kyu Hwan Shim
Seong Soo A. An
SangYun Kim
Seol Heui Han

Frontiers in Neurology

doi 10.3389/fneur.2022.899644

5,637 views
4 citations

Case Report

Published on 06 Jun 2022

Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia

in Neurogenetics

Xue Wang
Shanshan Mei
Zichen Tian
Lin Wang
Guiliang Hao
Xin Zhu
Wei Mao
Jianyu Li

Frontiers in Neurology

doi 10.3389/fneur.2022.921577

3,202 views
2 citations

Brief Research Report

Published on 03 Jun 2022

Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency

in Neurogenetics

Seondeuk Kim
Woo-Jin Lee
Jangsup Moon
Keun-Hwa Jung

Frontiers in Neurology

doi 10.3389/fneur.2022.841934

3,656 views
8 citations

Review

Published on 02 Jun 2022

Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies

in Neurogenetics

Kenya Nishioka
Yuzuru Imai
Hiroyo Yoshino
Yuanzhe Li
Manabu Funayama
Nobutaka Hattori

Frontiers in Neurology

doi 10.3389/fneur.2022.764917

6,709 views
12 citations

Original Research

Published on 27 May 2022

The Gain-of-Function R222S Variant in Scn11a Contributes to Visceral Hyperalgesia and Intestinal Dysmotility in Scn11aR222S/R222S Mice

in Neurogenetics

Chenyu Zhao
Jishuo Jin
Haoye Hu
Xi Zhou
Xiaoliu Shi

Frontiers in Neurology

doi 10.3389/fneur.2022.856459

3,478 views
7 citations

Original Research

Published on 27 May 2022

Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage

in Neurogenetics

Xiaolu Liu
Qiong Yang
Lu Tang
Ji He
Danyang Tian
Baojun Wang
Lihong Xie
Changbao Li
Dongsheng Fan

Frontiers in Neurology

doi 10.3389/fneur.2022.827165

3,391 views
4 citations

Case Report

Published on 26 May 2022

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

in Neurogenetics

Shuk Ching Chong
Yuet-Ping Yuen
Ye Cao
Sze-Shing Fan
Tak Yeung Leung
Emily K. Y. Chan
Xian Lun Zhu

Frontiers in Neurology

doi 10.3389/fneur.2022.853918

3,728 views
3 citations

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

4,531 views
8 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

6,215 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

4,014 views
15 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

5,375 views
6 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

4,125 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

7,097 views
17 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

3,477 views
5 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

3,501 views
9 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

4,543 views
13 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

4,884 views
8 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

3,328 views
5 citations

344 articles

articles

The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene

Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China

Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease

Case Report: Clinical Outcome From Pallidal Stimulation in a Patient With Levodopa-Resistant Dopa-Responsive Dystonia

Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency

Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies

The Gain-of-Function R222S Variant in Scn11a Contributes to Visceral Hyperalgesia and Intestinal Dysmotility in Scn11aR222S/R222S Mice

Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage

Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

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

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

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

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

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

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

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

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

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

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

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