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

2,089 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

2,301 views
5 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

3,530 views
7 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

2,218 views
3 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

1,955 views
1 citation

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

2,439 views
1 citation

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

2,815 views
3 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

3,859 views
6 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

2,710 views
11 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

2,850 views
3 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

2,827 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

4,615 views
11 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

2,340 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

2,458 views
6 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

2,979 views
9 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

3,362 views
4 citations

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Articles

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