Original Research

Published on 06 Jan 2022

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

in Neurogenetics

Lorenzo Nanetti
Daniela Di Bella
Stefania Magri
Mario Fichera
Elisa Sarto
Anna Castaldo
Alessia Mongelli
Silvia Baratta
Silvia Fenu
Marco Moscatelli

Frontiers in Neurology

doi 10.3389/fneur.2021.793547

3,389 views
8 citations

Original Research

Published on 17 Dec 2021

Genome-Wide Association Study of 2,093 Cases With Idiopathic Polyneuropathy and 445,256 Controls Identifies First Susceptibility Loci

in Neurogenetics

Bendik S. Winsvold
Ioannis Kitsos
Laurent F. Thomas
Anne Heidi Skogholt
Maiken E. Gabrielsen
John-Anker Zwart
Kristian Bernhard Nilsen

Frontiers in Neurology

doi 10.3389/fneur.2021.789093

3,751 views
4 citations

Original Research

Published on 16 Dec 2021

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family

in Neurogenetics

Liwen Wu
Xiangfu Liao
Sai Yang
Siyi Gan

Frontiers in Neurology

doi 10.3389/fneur.2021.750095

2,484 views
5 citations

Original Research

Published on 10 Dec 2021

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

in Neurogenetics

Ji-Hoon Na
Min Jung Lee
Chul Ho Lee
Young-Mock Lee

Frontiers in Neurology

doi 10.3389/fneur.2021.752467

3,058 views
6 citations

Case Report

Published on 06 Dec 2021

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

in Neurogenetics

Peter Sparber
Svetlana Mikhaylova
Varvara Galkina
Yulia Itkis
Mikhail Skoblov

Frontiers in Neurology

doi 10.3389/fneur.2021.761892

2,052 views
1 citation

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

1,231 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

4,971 views
3 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

6,505 views
7 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

6,515 views
10 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

8,692 views
37 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

1,140 views
1 citation

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

1,548 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

5,408 views
7 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

5,072 views
3 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

8,251 views
24 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

5,169 views
4 citations

Navigation group

Articles

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Genome-Wide Association Study of 2,093 Cases With Idiopathic Polyneuropathy and 445,256 Controls Identifies First Susceptibility Loci

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

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

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

Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

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

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

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

Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions

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

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

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

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