Frontiers in Neurology | Neurogenetics

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

4,627 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

5,632 views
5 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

5,328 views
10 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

4,742 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

8,161 views
19 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

4,523 views
18 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

6,049 views
24 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

3,517 views
17 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

6,876 views
11 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

3,562 views
10 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

22,282 views
61 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

10,327 views
18 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

8,636 views
28 citations

Review

Published on 24 Mar 2021

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

in Neurogenetics

Ibitayo Abigail Ademuwagun
Solomon Oladapo Rotimi
Steffen Syrbe
Yvonne Ukamaka Ajamma
Ezekiel Adebiyi

Frontiers in Neurology

doi 10.3389/fneur.2021.600050

21,977 views
57 citations

Review

Published on 02 Mar 2021

A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene

in Neurogenetics

Ana Vinagre-Aragón
David Campo-Caballero
Elisabet Mondragón-Rezola
Lara Pardina-Vilella
Haizea Hernandez Eguiazu
Ana Gorostidi
Ioana Croitoru
Alberto Bergareche
Javier Ruiz-Martinez

Frontiers in Neurology

doi 10.3389/fneur.2021.635396

4,924 views
22 citations

Case Report

Published on 26 Feb 2021

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

in Neurogenetics

Soma Furukawa
Misako Kunii
Hiroshi Doi
Naohide Kondo
Aya Ogura
Koichi Hirabuki
Takayuki Itoh
Naomichi Matsumoto
Fumiaki Tanaka
Masahisa Katsuno

Frontiers in Neurology

doi 10.3389/fneur.2021.622355

5,298 views
5 citations

Original Research

Published on 26 Feb 2021

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers

in Neurogenetics

Eileen E. Moran
Susan B. Bressman
Roberto A. Ortega
Deborah Raymond
William C. Nichols
Christina A. Palmese
Sonya Elango
Matthew Swan
Vicki Shanker
Imali Perera

Frontiers in Neurology

doi 10.3389/fneur.2021.635958

5,453 views
18 citations

Brief Research Report

Published on 10 Feb 2021

Association of SNCA Parkinson's Disease Risk Polymorphisms With Disease Progression in Newly Diagnosed Patients

in Neurogenetics

Aleksandra A. Szwedo
Camilla Christina Pedersen
Anastasia Ushakova
Lars Forsgren
Ole-Bjørn Tysnes
Carl E. Counsell
Guido Alves
Johannes Lange
Angus D. Macleod
Jodi Maple-Grødem

Frontiers in Neurology

doi 10.3389/fneur.2020.620585

4,602 views
14 citations

Brief Research Report

Published on 05 Feb 2021

APOE and MAPT Are Associated With Dementia in Neuropathologically Confirmed Parkinson's Disease

in Neurogenetics

Jon-Anders Tunold
Hanneke Geut
J. M. Annemieke Rozemuller
Sandra Pilar Henriksen
Mathias Toft
Wilma D. J. van de Berg
Lasse Pihlstrøm

Frontiers in Neurology

doi 10.3389/fneur.2021.631145

6,792 views
42 citations

Original Research

Published on 01 Feb 2021

High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy

in Neurogenetics

Zhiyong Chen
Yi Jayne Tan
Michelle M. Lian
Moses Tandiono
Jia Nee Foo
Weng Khong Lim
Nagaendran Kandiah
Eng-King Tan
Adeline S. L. Ng

Frontiers in Neurology

doi 10.3389/fneur.2021.631407

4,985 views
9 citations

Original Research

Published on 27 Jan 2021

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

in Neurogenetics

Federica Morani
Stefano Doccini
Giovanna Chiorino
Fabiana Fattori
Daniele Galatolo
Elisa Sciarrillo
Federica Gemignani
Stephan Züchner
Enrico Silvio Bertini
Filippo Maria Santorelli

Frontiers in Neurology

doi 10.3389/fneur.2020.603774

5,713 views
13 citations

Original Research

Published on 27 Jan 2021

Co-morbidities to Vestibular Impairments—Some Concomitant Disorders in Young and Older Adults

in Neurogenetics

Eva-Maj Malmström
Eva Ekvall Hansson
Anna Hafström
Måns Magnusson
Per-Anders Fransson

Frontiers in Neurology

doi 10.3389/fneur.2020.609928

4,005 views
7 citations

Brief Research Report

Published on 14 Jan 2021

Early-Onset Parkinson Disease Screening in Patients From Nigeria

in Neurogenetics

Lukasz M. Milanowski
Olajumoke Oshinaike
Benjamin J. Broadway
Jennifer A. Lindemann
Alexandra I. Soto-Beasley
Ronald L. Walton
Rana Hanna Al-Shaikh
Audrey J. Strongosky
Fabienne C. Fiesel
Owen A. Ross

Frontiers in Neurology

doi 10.3389/fneur.2020.594927

6,231 views
10 citations

Original Research

Published on 16 Dec 2020

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

in Neurogenetics

Emanuela Leonardi
Elisa Bettella
Maria Federica Pelizza
Maria Cristina Aspromonte
Roberta Polli
Clementina Boniver
Stefano Sartori
Donatella Milani
Alessandra Murgia

Frontiers in Neurology

doi 10.3389/fneur.2020.593446

7,752 views
26 citations

344 articles

articles

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

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

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

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

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

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

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

Editorial: miRNAs and Neurological Diseases

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

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

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

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

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers

Association of SNCA Parkinson's Disease Risk Polymorphisms With Disease Progression in Newly Diagnosed Patients

APOE and MAPT Are Associated With Dementia in Neuropathologically Confirmed Parkinson's Disease

High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

Co-morbidities to Vestibular Impairments—Some Concomitant Disorders in Young and Older Adults

Early-Onset Parkinson Disease Screening in Patients From Nigeria

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”