Frontiers in Neurology | Neurogenetics

Correction

Published on 09 Nov 2021

Corrigendum: 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.2021.792230

1,455 views

Case Report

Published on 08 Nov 2021

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series

in Neurogenetics

Zhenchu Tang
Shan Gao
Miao He
Qihua Chen
Jia Fang
Yingying Luo
Weiqian Yan
Xiaoliu Shi
Hui Huang
Jianguang Tang

Frontiers in Neurology

doi 10.3389/fneur.2021.747360

5,630 views
4 citations

Original Research

Published on 21 Oct 2021

Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

in Neurogenetics

Maha Dahawi
Mohamed S. Elmagzoub
Elhami A. Ahmed
Sara Baldassari
Guillaume Achaz
Fatima A. Elmugadam
Wasma A. Abdelgadir
Stéphanie Baulac
Julien Buratti
Omer Abdalla

Frontiers in Neurology

doi 10.3389/fneur.2021.738272

7,438 views
10 citations

Case Report

Published on 27 Sep 2021

Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders

in Neurogenetics

Jorge Diogo Da Silva
Marta Daniela Costa
Bruno Almeida
Fátima Lopes
Patrícia Maciel
Andreia Teixeira-Castro

Frontiers in Neurology

doi 10.3389/fneur.2021.735549

7,529 views
11 citations

Review

Published on 22 Sep 2021

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

in Neurogenetics

Daniele Guadagnolo
Maria Piane
Maria Rosaria Torrisi
Antonio Pizzuti
Simona Petrucci

Frontiers in Neurology

doi 10.3389/fneur.2021.648588

10,064 views
46 citations

Correction

Published on 08 Sep 2021

Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade

in Neurogenetics

Masahiro Uemura
Hiroaki Nozaki
Akihide Koyama
Naoko Sakai
Shoichiro Ando
Masato Kanazawa
Taisuke Kato
Osamu Onodera

Frontiers in Neurology

doi 10.3389/fneur.2021.756038

1,320 views

Editorial

Published on 23 Aug 2021

Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions

in Neurogenetics

Luca Marsili
Ignacio F. Mata
Marcelo A. Kauffman

Frontiers in Neurology

doi 10.3389/fneur.2021.743953

1,723 views

Original Research

Published on 20 Aug 2021

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

in Neurogenetics

Ashraf Yahia
Liena E. O. Elsayed
Remi Valter
Ahlam A. A. Hamed
Inaam N. Mohammed
Maha A. Elseed
Mustafa A. Salih
Typhaine Esteves
Nicolas Auger
Rayan Abubaker

Frontiers in Neurology

doi 10.3389/fneur.2021.720201

6,237 views
8 citations

Study Protocol

Published on 09 Aug 2021

LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

in Neurogenetics

Tatiana Usnich
Eva-Juliane Vollstedt
Nathalie Schell
Volha Skrahina
Xenia Bogdanovic
Hanaa Gaber
Toni M. Förster
Andreas Heuer
Natalia Koleva-Alazeh
Ilona Csoti

Frontiers in Neurology

doi 10.3389/fneur.2021.710572

5,770 views
6 citations

Brief Research Report

Published on 09 Aug 2021

Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort

in Neurogenetics

Maria Paulina Castelo Rueda
Athina Raftopoulou
Martin Gögele
Max Borsche
David Emmert
Christian Fuchsberger
Essi M. Hantikainen
Vladimir Vukovic
Christine Klein
Peter P. Pramstaller

Frontiers in Neurology

doi 10.3389/fneur.2021.706145

9,451 views
26 citations

Brief Research Report

Published on 04 Aug 2021

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease

in Neurogenetics

Gabriel Torrealba-Acosta
Eric Yu
Tanya Lobo-Prada
Javier Ruíz-Martínez
Ana Gorostidi-Pagola
Ziv Gan-Or
Kenneth Carazo-Céspedes
Jean-François Trempe
Ignacio F. Mata
Jaime Fornaguera-Trías

Frontiers in Neurology

doi 10.3389/fneur.2021.656342

5,775 views
5 citations

Case Report

Published on 02 Aug 2021

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report

in Neurogenetics

Li-Jun Jiang
Xue Zhao
Zhi-Yan Dou
Qing-Xiao Su
Zan-Hua Rong

Frontiers in Neurology

doi 10.3389/fneur.2021.522513

3,902 views
4 citations

Editorial

Published on 22 Jul 2021

Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders

in Neurogenetics

Francesca Cogliati
Francesca Forzano
Silvia Russo

Frontiers in Neurology

doi 10.3389/fneur.2021.711288

3,057 views
4 citations

Editorial

Published on 07 Jul 2021

Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

in Neurogenetics

Andrea Legati
Edoardo Giacopuzzi
Marco Spinazzi
Monkol Lek

Frontiers in Neurology

doi 10.3389/fneur.2021.712010

2,189 views
3 citations

Mini Review

Published on 24 Jun 2021

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

in Neurogenetics

Elisa Menozzi
Anthony H. V. Schapira

Frontiers in Neurology

doi 10.3389/fneur.2021.694764

12,722 views
54 citations

Review

Published on 22 Jun 2021

Genetic Defects and Pro-inflammatory Cytokines in Parkinson's Disease

in Neurogenetics

Albert Frank Magnusen
Shelby Loraine Hatton
Reena Rani
Manoj Kumar Pandey

Frontiers in Neurology

doi 10.3389/fneur.2021.636139

8,858 views
35 citations