Frontiers in Neurology | Neurogenetics

Brief Research Report

Published on 28 Jul 2020

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

in Neurogenetics

Suzanne Lesage
Marion Houot
Graziella Mangone
Christelle Tesson
Hélène Bertrand
Sylvie Forlani
Mathieu Anheim
Christine Brefel-Courbon
Emmanuel Broussolle
Stéphane Thobois

Frontiers in Neurology

doi 10.3389/fneur.2020.00682

9,062 views
46 citations

Original Research

Published on 24 Jul 2020

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

in Neurogenetics

Milena Crippa
Ilaria Bestetti
Silvia Maitz
Karin Weiss
Alice Spano
Maura Masciadri
Sarah Smithson
Lidia Larizza
Karen Low
Lior Cohen

Frontiers in Neurology

doi 10.3389/fneur.2020.00631

20,249 views
22 citations

Original Research

Published on 21 Jul 2020

Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease

in Neurogenetics

Sabine Prud'hon
Samir Bekadar
Agnès Rastetter
Justine Guégan
Florence Cormier-Dequaire
Lucette Lacomblez
Graziella Mangone
Hana You
Mailys Daniau
Yannick Marie

Frontiers in Neurology

doi 10.3389/fneur.2020.00641

4,284 views
4 citations

Mini Review

Published on 14 Jul 2020

Brain Magnetic Spectroscopy Imaging and Hereditary Spastic Paraplegia: A Focused Systematic Review on Current Landmarks and Future Perspectives

in Neurogenetics

Marinela Vavla
Domenico Montanaro
Silvia Pizzighello
Francesca Frijia
Filippo Arrigoni
Alessandra Baratto
Gianluca Piccoli
Gabriella Paparella
Andrea Martinuzzi

Frontiers in Neurology

doi 10.3389/fneur.2020.00515

4,486 views
4 citations

Review

Published on 08 Jul 2020

Perspective: Current Pitfalls in the Search for Future Treatments and Prevention of Parkinson's Disease

in Neurogenetics

Peter C. Poortvliet
Karen O'Maley
Peter A. Silburn
George D. Mellick

Frontiers in Neurology

doi 10.3389/fneur.2020.00686

5,180 views
8 citations

Original Research

Published on 07 Jul 2020

Genomic Analysis Identifies New Loci Associated With Motor Complications in Parkinson's Disease

in Neurogenetics

Ho-Sung Ryu
Kye Won Park
Nari Choi
Jinhee Kim
Young-Min Park
Sungyang Jo
Mi-Jung Kim
Young Jin Kim
Juyeon Kim
Kiju Kim

Frontiers in Neurology

doi 10.3389/fneur.2020.00570

6,171 views
18 citations

Original Research

Published on 07 Jul 2020

Longitudinal Monitoring of Parkinson's Disease in Different Ethnic Cohorts: The DodoNA and LONG-PD Study

in Neurogenetics

Katerina Markopoulou
Jan Aasly
Sun Ju Chung
Efthimios Dardiotis
Karin Wirdefeldt
Ashvini P. Premkumar
Bernadette Schoneburg
Ninith Kartha
Gary Wilk
Jun Wei

Frontiers in Neurology

doi 10.3389/fneur.2020.00548

7,374 views
17 citations

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

9,383 views
14 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

19,814 views
85 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

7,458 views
22 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

5,585 views
15 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

7,008 views
42 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

5,348 views
5 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

4,169 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

16,159 views
30 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

21,905 views
43 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

7,425 views
31 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

3,357 views
5 citations

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

3,568 views
6 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

15,305 views
109 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

6,585 views
25 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

8,490 views
34 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

7,220 views
2 citations

Case Report

Published on 07 Feb 2020

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

in Neurogenetics

Lipeng Yang
Jian Wu
Jing Zhang

Frontiers in Neurology

doi 10.3389/fneur.2020.00070

7,196 views
8 citations

344 articles

articles

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease

Brain Magnetic Spectroscopy Imaging and Hereditary Spastic Paraplegia: A Focused Systematic Review on Current Landmarks and Future Perspectives

Perspective: Current Pitfalls in the Search for Future Treatments and Prevention of Parkinson's Disease

Genomic Analysis Identifies New Loci Associated With Motor Complications in Parkinson's Disease

Longitudinal Monitoring of Parkinson's Disease in Different Ethnic Cohorts: The DodoNA and LONG-PD Study

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

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation