Frontiers in Neurology | Neurogenetics

Original Research

Published on 17 Jan 2020

Four-Year Longitudinal Study of Motor and Non-motor Symptoms in LRRK2-Related Parkinson's Disease

in Neurogenetics

Xiao Deng
Bin Xiao
Hui-Hua Li
Ebonne Ng
Yew-Long Lo
Eng-King Tan
Kumar M. Prakash

Frontiers in Neurology

doi 10.3389/fneur.2019.01379

4,111 views
8 citations

Case Report

Published on 15 Jan 2020

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

in Neurogenetics

Lulu Kang
Yi Liu
Ying Jin
Mengqiu Li
Jinqing Song
Yi Zhang
Yao Zhang
Yanling Yang

Frontiers in Neurology

doi 10.3389/fneur.2019.01335

9,035 views
13 citations

Case Report

Published on 15 Jan 2020

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

in Neurogenetics

Rosa Campopiano
Rosangela Ferese
Fabio Buttari
Cinzia Femiano
Diego Centonze
Francesco Fornai
Francesca Biagioni
Maria Antonietta Chiaravalloti
Mauro Magnani
Emiliano Giardina

Frontiers in Neurology

doi 10.3389/fneur.2019.01331

4,094 views
6 citations

Original Research

Published on 17 Dec 2019

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

in Neurogenetics

Xingao Wang
Qun Wang
Hefei Tang
Bin Chen
Xiang Dong
Songtao Niu
Shaowu Li
Yuzhi Shi
Wei Shan
Zaiqiang Zhang

Frontiers in Neurology

doi 10.3389/fneur.2019.01321

5,646 views
12 citations

Original Research

Published on 13 Dec 2019

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci

in Neurogenetics

Elisabeth Luisa Germer
Sophie Imhoff
Carles Vilariño-Güell
Meike Kasten
Philip Seibler
Norbert Brüggemann
International Parkinson’s Disease Genomics Consortium
Christine Klein
Joanne Trinh

Frontiers in Neurology

doi 10.3389/fneur.2019.01284

8,390 views
26 citations

Original Research

Published on 22 Nov 2019

Optical Coherence Tomography in a Cohort of Genetically Defined Hereditary Spastic Paraplegia: A Brief Research Report

in Neurogenetics

Marinela Vavla
Gabriella Paparella
Alessandro Papayannis
Riccardo Pascuzzo
Giulia Girardi
Francesco Pellegrini
Gianluca Capello
Gianni Prosdocimo
Andrea Martinuzzi

Frontiers in Neurology

doi 10.3389/fneur.2019.01193

2,864 views
4 citations

Original Research

Published on 20 Nov 2019

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

in Neurogenetics

Christiane D. Much
Konrad Schwefel
Dariush Skowronek
Loay Shoubash
Felix von Podewils
Miriam Elbracht
Stefanie Spiegler
Ingo Kurth
Agnes Flöel
Henry W. S. Schroeder

Frontiers in Neurology

doi 10.3389/fneur.2019.01219

3,689 views
10 citations

Case Report

Published on 06 Nov 2019

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

in Neurogenetics

Andrea Ciammola
Davide Sangalli
Jenny Sassone
Barbara Poletti
Laura Carelli
Paolo Banfi
Gabriele Pappacoda
Isabella Ceccherini
Alice Grossi
Luca Maderna

Frontiers in Neurology

doi 10.3389/fneur.2019.01124

8,243 views
9 citations

Original Research

Published on 15 Oct 2019

Carboxyl Terminus of Hsp70-Interacting Protein Is Increased in Serum and Cerebrospinal Fluid of Patients With Spinocerebellar Ataxia Type 3

in Neurogenetics

Zheng-wei Hu
Zhi-hua Yang
Shuo Zhang
Yu-tao Liu
Jing Yang
Yan-lin Wang
Cheng-yuan Mao
Qi-meng Zhang
Chang-he Shi
Yu-ming Xu

Frontiers in Neurology

doi 10.3389/fneur.2019.01094

3,299 views
8 citations

Case Report

Published on 04 Oct 2019

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

in Neurogenetics

Shuna Chen
Mingqin Zhu
Yulei Hao
Jiachun Feng
Ying Zhang

Frontiers in Neurology

doi 10.3389/fneur.2019.01040

14,634 views
11 citations

Correction

Published on 18 Sep 2019

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene

in Neurogenetics

Tao-Ran Li
Qun Wang
Mao-Mao Liu
Rui-Juan Lv

Frontiers in Neurology

doi 10.3389/fneur.2019.00936

2,083 views
2 citations

Systematic Review

Published on 18 Sep 2019

Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review

in Neurogenetics

Sue-Faye Siow
Ruaridh Cameron Smail
Karl Ng
Kishore R. Kumar
Carolyn M. Sue

Frontiers in Neurology

doi 10.3389/fneur.2019.00967

5,437 views
14 citations

Case Report

Published on 04 Sep 2019

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

in Neurogenetics

Parham Habibzadeh
Soroor Inaloo
Mohammad Silawi
Hassan Dastsooz
Mohammad Ali Farazi Fard
Forough Sadeghipour
Zahra Faghihi
Mohaddeseh Rezaeian
Majid Yavarian
Johann Böhm

Frontiers in Neurology

doi 10.3389/fneur.2019.00944

5,699 views
18 citations

Mini Review

Published on 28 Aug 2019

MEIS1 and Restless Legs Syndrome: A Comprehensive Review

in Neurogenetics

Faezeh Sarayloo
Patrick A. Dion
Guy A. Rouleau

Frontiers in Neurology

doi 10.3389/fneur.2019.00935

12,511 views
40 citations

Original Research

Published on 17 Jul 2019

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

in Neurogenetics

Muhammad Wasim
Haq Nawaz Khan
Hina Ayesha
Susanna M. I. Goorden
Frederic M. Vaz
Clara D. M. van Karnebeek
Fazli Rabbi Awan

Frontiers in Neurology

doi 10.3389/fneur.2019.00762

5,192 views
18 citations

Original Research

Published on 14 Jun 2019

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

in Neurogenetics

Christian Gatz
Denisa Hathazi
Ute Münchberg
Stephan Buchkremer
Thomas Labisch
Ben Munro
Rita Horvath
Ana Töpf
Joachim Weis
Andreas Roos

Frontiers in Neurology

doi 10.3389/fneur.2019.00562

4,852 views
10 citations

Case Report

Published on 05 Jun 2019

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

in Neurogenetics

Stefano Cotti Piccinelli
Maria T. Bassi
Andrea Citterio
Fiore Manganelli
Stefano Tozza
Filippo M. Santorelli
Serena Gallo Cassarino
Filomena Caria
Enrico Baldelli
Anna Galvagni

Frontiers in Neurology

doi 10.3389/fneur.2019.00580

7,459 views
18 citations

Case Report

Published on 29 May 2019

The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

in Neurogenetics

Matthew Benger
Kshitij Mankad
Christos Proukakis
Nicholas D. Mazarakis
Maria Kinali

Frontiers in Neurology

doi 10.3389/fneur.2019.00555

3,665 views
7 citations

Original Research

Published on 24 May 2019

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

in Neurogenetics

Laís Alves Jacinto-Scudeiro
Gustavo Dariva Machado
Annelise Ayres
Daniela Burguêz
Marcia Polese-Bonato
Carelis González-Salazar
Marina Siebert
Marcondes Cavalcante França Jr.
Maira Rozenfeld Olchik
Jonas Alex Morales Saute

Frontiers in Neurology

doi 10.3389/fneur.2019.00508

7,005 views
19 citations

Opinion

Published on 22 May 2019

Cathepsin Oxidation Alters Alpha-Synuclein Processing

in Neurogenetics

Andrew W. Ferree

Frontiers in Neurology

doi 10.3389/fneur.2019.00530

3,229 views
5 citations

Original Research

Published on 21 May 2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

in Neurogenetics

Michelle Demos
Ilaria Guella
Conrado DeGuzman
Marna B. McKenzie
Sarah E. Buerki
Daniel M. Evans
Eric B. Toyota
Cyrus Boelman
Linda L. Huh
Anita Datta

Frontiers in Neurology

doi 10.3389/fneur.2019.00434

16,874 views
95 citations

Original Research

Published on 14 May 2019

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children

in Neurogenetics

Shasha Long
Hao Zhou
Shuang Li
Tianqi Wang
Yu Ma
Chunpei Li
Yuanfeng Zhou
Shuizhen Zhou
Bingbing Wu
Yi Wang

Frontiers in Neurology

doi 10.3389/fneur.2019.00505

12,590 views
37 citations

Original Research

Published on 08 May 2019

Genetic Variants of PICALM rs541458 Modulate Brain Spontaneous Activity in Older Adults With Amnestic Mild Cognitive Impairment

in Neurogenetics

Liying Zhuang
Xiaoyan Liu
Yongmei Shi
Xiaoli Liu
Benyan Luo

Frontiers in Neurology

doi 10.3389/fneur.2019.00494

3,942 views
17 citations

Perspective

Published on 30 Apr 2019

Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?

in Neurogenetics

Simone Migliore
Joseph Jankovic
Ferdinando Squitieri

Frontiers in Neurology

doi 10.3389/fneur.2019.00453

29,448 views
46 citations

344 articles

articles

Four-Year Longitudinal Study of Motor and Non-motor Symptoms in LRRK2-Related Parkinson's Disease

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci

Optical Coherence Tomography in a Cohort of Genetically Defined Hereditary Spastic Paraplegia: A Brief Research Report

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

Carboxyl Terminus of Hsp70-Interacting Protein Is Increased in Serum and Cerebrospinal Fluid of Patients With Spinocerebellar Ataxia Type 3

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

Addendum: A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene

Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

MEIS1 and Restless Legs Syndrome: A Comprehensive Review

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Cathepsin Oxidation Alters Alpha-Synuclein Processing

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children

Genetic Variants of PICALM rs541458 Modulate Brain Spontaneous Activity in Older Adults With Amnestic Mild Cognitive Impairment

Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon?