Frontiers in Neurology | Neurogenetics

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

2,270 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

3,690 views
10 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

2,604 views
5 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

3,290 views
4 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

4,077 views
3 citations

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

5,388 views
11 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

5,590 views
11 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

5,375 views
16 citations

Original Research

Published on 09 Jan 2023

Novel heterozygous mutation in alpha-2-macroglobulin (A2M) suppressing the binding of amyloid-β (Aβ)

in Neurogenetics

Guozhen Qiu
Liming Cao
Yong-Jun Chen

Frontiers in Neurology

doi 10.3389/fneur.2022.1090900

3,736 views
9 citations

Case Report

Published on 22 Dec 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

in Neurogenetics

Weijie Chen
Yuanyuan Wang
Shengwen Huang
Xiaoli Yang
Liwei Shen
Danhong Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.1069453

4,971 views

Case Report

Published on 22 Dec 2022

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma

in Neurogenetics

Zongzhi Jiang
Yuxin Fu
Xiaojing Wei
Ziyi Wang
Xuefan Yu

Frontiers in Neurology

doi 10.3389/fneur.2022.1010636

2,981 views
3 citations

Original Research

Published on 21 Dec 2022

The SFT2D2 gene is associated with the autoimmune pathology of schizophrenia in a Chinese population

in Neurogenetics

Duilin Liu
Lin Wu
Hui Wei
Caiyun Zhu
Runhui Tian
Wanwan Zhu
Qi Xu

Frontiers in Neurology

doi 10.3389/fneur.2022.1037777

2,517 views
6 citations

Case Report

Published on 19 Dec 2022

Case report: Alexander's disease with “head drop” as the main symptom and literature review

in Neurogenetics

Yujun Yuan
Qiong Wu
Liang Huo
Hua Wang
Xueyan Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.1002527

4,668 views

Brief Research Report

Published on 09 Dec 2022

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort

in Neurogenetics

Ting-Wei Liao
Chih-Ying Chao
Yih-Ru Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.1090406

2,999 views
3 citations

Original Research

Published on 07 Dec 2022

Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study

in Neurogenetics

Yue Yang
Wenjie Hao
Taohua Wei
LuLu Tang
Nannan Qian
Yulong Yang
Hu Xi
Shijie Zhang
Wenming Yang

Frontiers in Neurology

doi 10.3389/fneur.2022.1058642

11,668 views
10 citations

Review

Published on 23 Nov 2022

Newborn screening and gene therapy in SMA: Challenges related to vaccinations

in Neurogenetics

Katarzyna Kotulska
Sergiusz Jozwiak
Maria Jedrzejowska
Monika Gos
Magdalena Ogrodnik
Jacek Wysocki
Hanna Czajka
Ernest Kuchar

Frontiers in Neurology

doi 10.3389/fneur.2022.890860

6,568 views
9 citations

Original Research

Published on 18 Nov 2022

A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy

in Neurogenetics

Wenqiao Wang
Yijie Feng
Qi Long
Fei Chen
Yuzhi Chen
Ming Ma
Shanshan Mao

Frontiers in Neurology

doi 10.3389/fneur.2022.1034894

5,365 views
11 citations

Original Research

Published on 17 Nov 2022

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

in Neurogenetics

Jia Chen
Junfang Xiao
Ge Chen
Qiang Xu
Xingwu Wu
Lifeng Tian
Zhihui Huang
Cailin Xin
Yan Zhao
Zhen Guo

Frontiers in Neurology

doi 10.3389/fneur.2022.988519

3,833 views
3 citations

Brief Research Report

Published on 14 Nov 2022

A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

in Neurogenetics

Haitian Nan
Min Chu
Li Liu
Kexin Xie
Liyong Wu

Frontiers in Neurology

doi 10.3389/fneur.2022.1005544

2,891 views
3 citations

Case Report

Published on 08 Nov 2022

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

in Neurogenetics

Margarita Sharova
Mikhail Skoblov
Elena Dadali
Nina Demina
Olga Shchagina
Fedor Konovalov
Maria Ampleeva
Inna Sharkova
Sergey Kutsev

Frontiers in Neurology

doi 10.3389/fneur.2022.1008937

2,633 views
6 citations

Case Report

Published on 21 Oct 2022

Case report: Ventricular primary central nervous system lymphoma with partial hypointensity on diffusion-weighted imaging

in Neurogenetics

Xintong Li
Hua Xiong

Frontiers in Neurology

doi 10.3389/fneur.2022.923206

3,689 views
1 citation

Case Report

Published on 21 Oct 2022

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report

in Neurogenetics

Yu Wang
Su-yue Wang
Kai Li
Yu-long Zhu
Kun Xia
Dan-dan Sun
Wen-long Ai
Xiao-ming Fu
Qun-rong Ye
Jun Li

Frontiers in Neurology

doi 10.3389/fneur.2022.1010150

5,106 views
5 citations

Case Report

Published on 20 Oct 2022

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

in Neurogenetics

Ethiraj Ravindran
Noor Ullah
Shyamala Mani
Elaine Guo Yan Chew
Moses Tandiono
Jia Nee Foo
Chiea Chuen Khor
Angela M. Kaindl
Saima Siddiqi

Frontiers in Neurology

doi 10.3389/fneur.2022.1017654

3,158 views
2 citations

Case Report

Published on 17 Oct 2022

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

in Neurogenetics

Sarah Alsubhi
Bradley Osterman
Nicolas Chrestian
François Dubeau
Daniela Buhas
Myriam Srour

Frontiers in Neurology

doi 10.3389/fneur.2022.913652

4,029 views
3 citations

337 articles

articles

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

Novel heterozygous mutation in alpha-2-macroglobulin (A2M) suppressing the binding of amyloid-β (Aβ)

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma

The SFT2D2 gene is associated with the autoimmune pathology of schizophrenia in a Chinese population

Case report: Alexander's disease with “head drop” as the main symptom and literature review

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort

Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study

Newborn screening and gene therapy in SMA: Challenges related to vaccinations

A comparative analysis of body composition assessment by BIA and DXA in children with type II and III spinal muscular atrophy

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

Case report: Ventricular primary central nervous system lymphoma with partial hypointensity on diffusion-weighted imaging

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report

Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases