Frontiers in Neurology | Neurogenetics

Brief Research Report

Published on 14 Dec 2020

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

in Neurogenetics

Yongzhi Xie
Zhiqiang Lin
Pukar Singh Pakhrin
Xiaobo Li
Binghao Wang
Lei Liu
Shunxiang Huang
Huadong Zhao
Wanqian Cao
Zhengmao Hu

Frontiers in Neurology

doi 10.3389/fneur.2020.603003

6,221 views
14 citations

Review

Published on 08 Dec 2020

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

in Neurogenetics

Angela Peron
Ilaria Catusi
Maria Paola Recalcati
Luciano Calzari
Lidia Larizza
Aglaia Vignoli
Maria Paola Canevini

Frontiers in Neurology

doi 10.3389/fneur.2020.613035

27,967 views
28 citations

Original Research

Published on 26 Nov 2020

Association of the Plasma Long Non-coding RNA MEG3 With Parkinson's Disease

in Neurogenetics

Yi Quan
Jia Wang
Shuo Wang
Jizong Zhao

Frontiers in Neurology

doi 10.3389/fneur.2020.532891

4,653 views
42 citations

Original Research

Published on 25 Nov 2020

GJA1 Gene Polymorphisms and Topographic Distribution of Cranial MRI Lesions in Cerebral Small Vessel Disease

in Neurogenetics

Jing Zhang
Qian You
Junlong Shu
Qiang Gang
Haiqiang Jin
Meng Yu
Wei Sun
Wei Zhang
Yining Huang

Frontiers in Neurology

doi 10.3389/fneur.2020.583974

3,618 views
5 citations

Brief Research Report

Published on 12 Nov 2020

Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin

in Neurogenetics

Karen Nuytemans
Farid Rajabli
Parker L. Bussies
Katrina Celis
William K. Scott
Carlos Singer
Corneliu C. Luca
Angel Vinuela
Margaret A. Pericak-Vance
Jeff M. Vance

Frontiers in Neurology

doi 10.3389/fneur.2020.573733

4,418 views
9 citations

Review

Published on 09 Nov 2020

MicroRNAs Regulating Cytoskeleton Dynamics, Endocytosis, and Cell Motility—A Link Between Neurodegeneration and Cancer?

in Neurogenetics

Dmytro Gerasymchuk
Anastasiia Hubiernatorova
Andrii Domanskyi

Frontiers in Neurology

doi 10.3389/fneur.2020.549006

5,479 views
14 citations

Case Report

Published on 29 Oct 2020

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

in Neurogenetics

Liena E. O. Elsayed
Inaam N. Mohammed
Ahlam A. A. Hamed
Maha A. Elseed
Mustafa A. M. Salih
Ashraf Yahia
Rayan Abubaker
Mahmoud Koko
Amal S. I. Abd Allah
Mustafa I. Elbashir

Frontiers in Neurology

doi 10.3389/fneur.2020.569996

4,589 views
7 citations

Brief Research Report

Published on 27 Oct 2020

Extended Study of NUS1 Gene Variants in Parkinson's Disease

in Neurogenetics

Lamei Yuan
Xiangyu Chen
Zhi Song
Weidong Le
Wen Zheng
Xin Liu
Hao Deng

Frontiers in Neurology

doi 10.3389/fneur.2020.583182

3,930 views
11 citations

Original Research

Published on 22 Oct 2020

Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

in Neurogenetics

Melissa Leija-Salazar
Alan Pittman
Katya Mokretar
Huw Morris
Anthony H. Schapira
Christos Proukakis

Frontiers in Neurology

doi 10.3389/fneur.2020.570424

4,576 views
10 citations

Review

Published on 22 Oct 2020

Emerging Roles of microRNAs as Biomarkers and Therapeutic Targets for Diabetic Neuropathy

in Neurogenetics

Baoyan Fan
Michael Chopp
Zheng Gang Zhang
Xian Shuang Liu

Frontiers in Neurology

doi 10.3389/fneur.2020.558758

7,470 views
35 citations

Case Report

Published on 15 Oct 2020

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

in Neurogenetics

Nicholas A. Bascou
Maria L. Beltran-Quintero
Maria L. Escolar

Frontiers in Neurology

doi 10.3389/fneur.2020.563724

10,173 views
20 citations

Review

Published on 15 Oct 2020

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

in Neurogenetics

Francesca Jean
Amanda Stuart
Maja Tarailo-Graovac

Frontiers in Neurology

doi 10.3389/fneur.2020.570830

15,708 views
71 citations

Brief Research Report

Published on 09 Oct 2020

A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria

in Neurogenetics

Chenyu Gao
Ting Huang
Rui Chen
Zhenhua Yuan
Youyong Tian
Yingdong Zhang

Frontiers in Neurology

doi 10.3389/fneur.2020.582323

4,045 views
5 citations

Original Research

Published on 08 Oct 2020

High-risk Allele for Herpes Labialis Severity at the IFNL3/4 Locus is Associated With Vestibular Neuritis

in Neurogenetics

Dan Rujescu
Marko Herrling
Annette M. Hartmann
Stephan Maul
Ina Giegling
Bettina Konte
Michael Strupp

Frontiers in Neurology

doi 10.3389/fneur.2020.570638

3,627 views
13 citations

Original Research

Published on 29 Sep 2020

Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease

in Neurogenetics

Kensuke Daida
Manabu Funayama
Yuanzhe Li
Hiroyo Yoshino
Arisa Hayashida
Aya Ikeda
Kotaro Ogaki
Kenya Nishioka
Nobutaka Hattori

Frontiers in Neurology

doi 10.3389/fneur.2020.576465

3,696 views
4 citations

Review

Published on 25 Sep 2020

SAMHD1 as the Potential Link Between SARS-CoV-2 Infection and Neurological Complications

in Neurogenetics

Aiza Khan
Consolato Sergi

Frontiers in Neurology

doi 10.3389/fneur.2020.562913

11,927 views
17 citations

Review

Published on 15 Sep 2020

The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease

in Neurogenetics

Dajana Grossmann
Clara Berenguer-Escuder
Axel Chemla
Giuseppe Arena
Rejko Krüger

Frontiers in Neurology

doi 10.3389/fneur.2020.00587

19,067 views
50 citations

Case Report

Published on 11 Sep 2020

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

in Neurogenetics

Pasquale Scoppettuolo
Noémie Ligot
Vanessa Wermenbol
Patrick Van Bogaert
Gilles Naeije

Frontiers in Neurology

doi 10.3389/fneur.2020.00827

3,973 views
1 citation

Review

Published on 04 Sep 2020

Patient-Derived Midbrain Organoids to Explore the Molecular Basis of Parkinson's Disease

in Neurogenetics

Benjamin Galet
Hélène Cheval
Philippe Ravassard

Frontiers in Neurology

doi 10.3389/fneur.2020.01005

18,421 views
41 citations

Original Research

Published on 02 Sep 2020

Association Between a Variable Number Tandem Repeat Polymorphism Within the DAT1 Gene and the Mesolimbic Pathway in Parkinson's Disease

in Neurogenetics

Stefan du Plessis
Minke Bekker
Chanelle Buckle
Matthijs Vink
Soraya Seedat
Soraya Bardien
Jonathan Carr
Shameemah Abrahams

Frontiers in Neurology

doi 10.3389/fneur.2020.00982

3,805 views
4 citations

Original Research

Published on 25 Aug 2020

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance

in Neurogenetics

Sylvie Delcambre
Jenny Ghelfi
Nassima Ouzren
Léa Grandmougin
Catherine Delbrouck
Philip Seibler
Kobi Wasner
Jan O. Aasly
Christine Klein
Joanne Trinh

Frontiers in Neurology

doi 10.3389/fneur.2020.00881

9,017 views
35 citations

Case Report

Published on 21 Aug 2020

Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review

in Neurogenetics

Junfei Zhong
Fei Jiang
Huan Yang
Jing Li
Jian Cheng
Qiuming Zeng
Qian Xu

Frontiers in Neurology

doi 10.3389/fneur.2020.00830

5,916 views
7 citations

Review

Published on 20 Aug 2020

Bidirectional Relation Between Parkinson's Disease and Glioblastoma Multiforme

in Neurogenetics

Pauline Mencke
Zoé Hanss
Ibrahim Boussaad
Pierre-Emmanuel Sugier
Alexis Elbaz
Rejko Krüger

Frontiers in Neurology

doi 10.3389/fneur.2020.00898

10,470 views
24 citations

Case Report

Published on 07 Aug 2020

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene

in Neurogenetics

Dénes Zádori
Levente Szalárdy
Zita Reisz
Gabor G. Kovacs
Rita Maszlag-Török
Norbert F. Ajeawung
László Vécsei
Philippe M. Campeau
Péter Klivényi

Frontiers in Neurology

doi 10.3389/fneur.2020.00767

4,272 views
12 citations

344 articles

articles

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

Association of the Plasma Long Non-coding RNA MEG3 With Parkinson's Disease

GJA1 Gene Polymorphisms and Topographic Distribution of Cranial MRI Lesions in Cerebral Small Vessel Disease

Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin

MicroRNAs Regulating Cytoskeleton Dynamics, Endocytosis, and Cell Motility—A Link Between Neurodegeneration and Cancer?

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Extended Study of NUS1 Gene Variants in Parkinson's Disease

Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

Emerging Roles of microRNAs as Biomarkers and Therapeutic Targets for Diabetic Neuropathy

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Diagnostic Criteria

High-risk Allele for Herpes Labialis Severity at the IFNL3/4 Locus is Associated With Vestibular Neuritis

Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease

SAMHD1 as the Potential Link Between SARS-CoV-2 Infection and Neurological Complications

The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

Patient-Derived Midbrain Organoids to Explore the Molecular Basis of Parkinson's Disease

Association Between a Variable Number Tandem Repeat Polymorphism Within the DAT1 Gene and the Mesolimbic Pathway in Parkinson's Disease

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance

Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review

Bidirectional Relation Between Parkinson's Disease and Glioblastoma Multiforme

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene