Original Research

Published on 03 Jul 2020

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease

in Neurogenetics

Xiaoxuan Liu
Xiaohui Duan
Yingshuang Zhang
Dongsheng Fan

Frontiers in Neurology

doi 10.3389/fneur.2020.00630

7,069 views
8 citations

Review

Published on 03 Jul 2020

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature

in Neurogenetics

Masahiro Uemura
Hiroaki Nozaki
Taisuke Kato
Akihide Koyama
Naoko Sakai
Shoichiro Ando
Masato Kanazawa
Nozomi Hishikawa
Yoshinori Nishimoto
Kiran Polavarapu

Frontiers in Neurology

doi 10.3389/fneur.2020.00545

15,196 views
62 citations

Original Research

Published on 30 Jun 2020

Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland

in Neurogenetics

Diana A. Olszewska
Allan McCarthy
Alexandra I. Soto-Beasley
Ronald L. Walton
Brian Magennis
Russell L. McLaughlin
Orla Hardiman
Owen A. Ross
Tim Lynch

Frontiers in Neurology

doi 10.3389/fneur.2020.00527

5,632 views
20 citations

Original Research

Published on 26 Jun 2020

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

in Neurogenetics

Yujing Gao
Gabrielle R. Wilson
Nicholas Salce
Alexandra Romano
George D. Mellick
Sarah E. M. Stephenson
Paul J. Lockhart

Frontiers in Neurology

doi 10.3389/fneur.2020.00523

4,148 views
12 citations

Perspective

Published on 25 Jun 2020

microRNA-146a Signaling in Alzheimer's Disease (AD) and Prion Disease (PrD)

in Neurogenetics

Walter J. Lukiw

Frontiers in Neurology

doi 10.3389/fneur.2020.00462

5,313 views
35 citations

Brief Research Report

Published on 23 Jun 2020

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

in Neurogenetics

Olimpia Musumeci
Edoardo Ferlazzo
Carmelo Rodolico
Antonio Gambardella
Monica Gagliardi
Umberto Aguglia
Antonio Toscano

Frontiers in Neurology

doi 10.3389/fneur.2020.00514

3,842 views
4 citations

Original Research

Published on 23 Jun 2020

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families

in Neurogenetics

Xinran Ma
Ji He
Xiaoxuan Liu
Dongsheng Fan

Frontiers in Neurology

doi 10.3389/fneur.2020.00499

2,816 views
5 citations

Perspective

Published on 19 Jun 2020

Parkinson's Disease Research on the African Continent: Obstacles and Opportunities

in Neurogenetics

Marieke C. J. Dekker
Toumany Coulibaly
Soraya Bardien
Owen A. Ross
Jonathan Carr
Morenikeji Komolafe

Frontiers in Neurology

doi 10.3389/fneur.2020.00512

9,771 views
20 citations

Study Protocol

Published on 18 Jun 2020

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research

in Neurogenetics

Roopa Rajan
K. P. Divya
Rukmini Mridula Kandadai
Ravi Yadav
Venkata P. Satagopam
U. K. Madhusoodanan
Pankaj Agarwal
Niraj Kumar
Teresa Ferreira
Hrishikesh Kumar

Frontiers in Neurology

doi 10.3389/fneur.2020.00524

18,499 views
30 citations

Mini Review

Published on 29 May 2020

Olfactory Dysfunction in Familial and Sporadic Parkinson's Disease

in Neurogenetics

Bruce A. Chase
Katerina Markopoulou

Frontiers in Neurology

doi 10.3389/fneur.2020.00447

5,456 views
24 citations

Original Research

Published on 15 May 2020

Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

in Neurogenetics

Steven R. Bentley
Suliman Khan
Marco Öchsner
Susitha Premarathne
Zain Aslam
Javed Y. Fowdar
Jamila Iqbal
Muhammad Naeem
Christopher A. Love
Stephen A. Wood

Frontiers in Neurology

doi 10.3389/fneur.2020.00331

2,502 views
1 citation

Original Research

Published on 05 May 2020

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

in Neurogenetics

Chunlin You
Weike Zeng
Lingna Deng
Zhihao Lei
Xinyi Gao
Victor Wei Zhang
Yidong Wang

Frontiers in Neurology

doi 10.3389/fneur.2020.00319

2,605 views
3 citations

Review

Published on 17 Apr 2020

The Regulation of microRNAs in Alzheimer's Disease

in Neurogenetics

Xianjuan Kou
Dandan Chen
Ning Chen

Frontiers in Neurology

doi 10.3389/fneur.2020.00288

12,336 views
85 citations

Systematic Review

Published on 25 Feb 2020

A Meta-Analytic Review of the Value of miRNA for Multiple Sclerosis Diagnosis

in Neurogenetics

Zongpu Zhou
Huihui Xiong
Fukang Xie
Zhongdao Wu
Ying Feng

Frontiers in Neurology

doi 10.3389/fneur.2020.00132

5,455 views
19 citations

Systematic Review

Published on 18 Feb 2020

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

in Neurogenetics

Hilde A. G. Warmerdam
Elise A. Termeulen-Ferreira
Laura A. Tseng
Jessica Y. Lee
Agnies M. van Eeghen
Carlos R. Ferreira
Clara D. M. van Karnebeek

Frontiers in Neurology

doi 10.3389/fneur.2019.01369

6,137 views
21 citations

Case Report

Published on 14 Feb 2020

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

in Neurogenetics

Sergio Aguilera-Albesa
Ana Belén de la Hoz
Nekane Ibarluzea
Andrés R. Ordóñez-Castillo
Olivia Busto-Crespo
Olatz Villate
María Asunción Ibiricu-Yanguas
María E. Yoldi-Petri
Iñaki García de Gurtubay
Guiomar Perez de Nanclares

Frontiers in Neurology

doi 10.3389/fneur.2020.00041

5,745 views
2 citations

Navigation group

Articles

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease

HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature

Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

microRNA-146a Signaling in Alzheimer's Disease (AD) and Prion Disease (PrD)

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families

Parkinson's Disease Research on the African Continent: Obstacles and Opportunities

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research

Olfactory Dysfunction in Familial and Sporadic Parkinson's Disease

Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

The Regulation of microRNAs in Alzheimer's Disease

A Meta-Analytic Review of the Value of miRNA for Multiple Sclerosis Diagnosis

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis