Frontiers in Neurology | Neurogenetics

Case Report

Published on 17 Jun 2021

Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants

in Neurogenetics

Hong Jin
Xiaotun Ren
Husheng Wu
Yanqi Hou
Fang Fang

Frontiers in Neurology

doi 10.3389/fneur.2021.585606

3,063 views
2 citations

Review

Published on 14 Jun 2021

Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models

in Neurogenetics

Tetsuro Abe
Tomoki Kuwahara

Frontiers in Neurology

doi 10.3389/fneur.2021.681369

8,978 views
16 citations

Original Research

Published on 11 Jun 2021

High PYGL Expression Predicts Poor Prognosis in Human Gliomas

in Neurogenetics

Chang-yi Zhao
Chun-hui Hua
Chang-hua Li
Rui-zhe Zheng
Xin-yuan Li

Frontiers in Neurology

doi 10.3389/fneur.2021.652931

5,160 views
19 citations

Original Research

Published on 10 Jun 2021

A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood

in Neurogenetics

Hongyan Bi
Hui Guo
Qianfei Wang
Xiao Zhang
Yaming Zhao
Jimei Li
Weiqin Zhao
Houzhen Tuo
Yongbo Zhang

Frontiers in Neurology

doi 10.3389/fneur.2021.675616

3,830 views
9 citations

Original Research

Published on 19 May 2021

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

in Neurogenetics

Yi-Jun Chen
Zai-Qiang Zhang
Meng-Wen Wang
Yu-Sen Qiu
Ru-Ying Yuan
En-Lin Dong
Zhe Zhao
Hai-Tao Zhou
Ning Wang
Wan-Jin Chen

Frontiers in Neurology

doi 10.3389/fneur.2021.627531

4,427 views
4 citations

Original Research

Published on 19 May 2021

Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis During Embryonic Neurodevelopment Under Inositol Deficiency

in Neurogenetics

Huixuan Yue
Shen Li
Jiaxing Qin
Tingting Gao
Jianjun Lyu
Yu Liu
Xiuwei Wang
Zhen Guan
Zhiqiang Zhu
Bo Niu

Frontiers in Neurology

doi 10.3389/fneur.2021.579998

3,955 views
8 citations

Original Research

Published on 19 May 2021

Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis

in Neurogenetics

Jacqueline Dominguez
Jeryl Tan Yu
Yi Jayne Tan
Arlene Ng
Ma Fe De Guzman
Boots Natividad
Ma Luisa Daroy
Jemellee Cano
Justine Yu
Michelle M. Lian

Frontiers in Neurology

doi 10.3389/fneur.2021.645913

4,473 views
9 citations

Original Research

Published on 07 May 2021

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies

in Neurogenetics

Yanping Wei
Yan Huang
Yingmai Yang
Min Qian

Frontiers in Neurology

doi 10.3389/fneur.2021.648740

6,717 views
16 citations

Original Research

Published on 05 May 2021

Circulating hsa-miR-323b-3p in Huntington's Disease: A Pilot Study

in Neurogenetics

Michela Ferraldeschi
Silvia Romano
Simona Giglio
Carmela Romano
Emanuele Morena
Rosella Mechelli
Viviana Annibali
Martina Ubaldi
Maria Chiara Buscarinu
Renato Umeton

Frontiers in Neurology

doi 10.3389/fneur.2021.657973

3,736 views
16 citations

Original Research

Published on 04 May 2021

The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

in Neurogenetics

Jie Pang
Jing Yang
Yanpeng Yuan
Yuan Gao
Changhe Shi
Shiheng Fan
Yuming Xu

Frontiers in Neurology

doi 10.3389/fneur.2021.624321

4,848 views
19 citations

Editorial

Published on 20 Apr 2021

Editorial: miRNAs and Neurological Diseases

in Neurogenetics

Hsiuying Wang
Y. H. Taguchi
Xianshuang Liu

Frontiers in Neurology

doi 10.3389/fneur.2021.662373

2,824 views
15 citations

Original Research

Published on 14 Apr 2021

Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort

in Neurogenetics

Katerina Markopoulou
Bruce A. Chase
Ashvini P. Premkumar
Bernadette Schoneburg
Ninith Kartha
Jun Wei
Hongjie Yu
Alexander Epshteyn
Lisette Garduno
Anna Pham

Frontiers in Neurology

doi 10.3389/fneur.2021.662278

5,809 views
10 citations

Editorial

Published on 06 Apr 2021

Editorial: Celebrating the Diversity of Genetic Research to Dissect the Pathogenesis of Parkinson's Disease

in Neurogenetics

Matthew J. Farrer
Soraya Bardien
Nobutaka Hattori
Suzanne Lesage
Owen A. Ross
George D. Mellick
Rejko Kruger

Frontiers in Neurology

doi 10.3389/fneur.2021.648417

2,793 views
9 citations

Review

Published on 01 Apr 2021

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

in Neurogenetics

Philippe A. Salles
Ignacio F. Mata
Tobias Brünger
Dennis Lal
Hubert H. Fernandez

Frontiers in Neurology

doi 10.3389/fneur.2021.637890

19,077 views
51 citations

Original Research

Published on 25 Mar 2021

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

in Neurogenetics

Majida Charif
Céline Bris
David Goudenège
Valérie Desquiret-Dumas
Estelle Colin
Alban Ziegler
Vincent Procaccio
Pascal Reynier
Dominique Bonneau
Guy Lenaers

Frontiers in Neurology

doi 10.3389/fneur.2021.602979

7,988 views
16 citations

Brief Research Report

Published on 25 Mar 2021

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

in Neurogenetics

Suzanne Lesage
Graziella Mangone
Christelle Tesson
Hélène Bertrand
Mustapha Benmahdjoub
Selma Kesraoui
Mohamed Arezki
Andrew Singleton
Jean-Christophe Corvol
Alexis Brice

Frontiers in Neurology

doi 10.3389/fneur.2021.648457

6,837 views
22 citations