Original Research

Published on 16 Dec 2020

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

in Neurogenetics

Emanuela Leonardi
Elisa Bettella
Maria Federica Pelizza
Maria Cristina Aspromonte
Roberta Polli
Clementina Boniver
Stefano Sartori
Donatella Milani
Alessandra Murgia

Frontiers in Neurology

doi 10.3389/fneur.2020.593446

5,826 views
16 citations

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

4,494 views
13 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

21,066 views
17 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

3,469 views
30 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

2,526 views
4 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

3,310 views
8 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

3,868 views
9 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

3,339 views
6 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

2,943 views
4 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

3,498 views
9 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

5,645 views
26 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

7,156 views
12 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

12,369 views
55 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

2,968 views
3 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

2,670 views
10 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

2,821 views
3 citations

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Articles

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

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