Frontiers in Neurology | Neurogenetics

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

10,883 views
32 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

3,195 views
16 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

27,088 views
38 citations

Case Report

Published on 24 Apr 2019

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency

in Neurogenetics

Salam Massadeh
Muhammad Umair
Manal Alaamery
Majid Alfadhel

Frontiers in Neurology

doi 10.3389/fneur.2019.00411

9,247 views
10 citations

Case Report

Published on 24 Apr 2019

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms

in Neurogenetics

Si Luo
Hui Jin
Jiajun Chen
Lei Zhang

Frontiers in Neurology

doi 10.3389/fneur.2019.00413

3,583 views
6 citations

Case Report

Published on 18 Apr 2019

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.2019.00347

5,149 views
12 citations

Case Report

Published on 06 Feb 2019

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases

in Neurogenetics

Matteo Foschi
Veria Vacchiano
Patrizia Avoni
Alex Incensi
Stella Battaglia
Vincenzo Donadio
Elena Panzeri
Maria Teresa Bassi
Rocco Liguori
Giovanni Rizzo

Frontiers in Neurology

doi 10.3389/fneur.2019.00070

7,607 views
6 citations

Case Report

Published on 31 Jan 2019

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

in Neurogenetics

Delia Gagliardi
Eleonora Mauri
Francesca Magri
Daniele Velardo
Megi Meneri
Elena Abati
Roberta Brusa
Irene Faravelli
Daniela Piga
Dario Ronchi

Frontiers in Neurology

doi 10.3389/fneur.2019.00038

5,503 views
21 citations

Original Research

Published on 11 Dec 2018

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism

in Neurogenetics

Adam Book
Ilaria Guella
Tara Candido
Alexis Brice
Nobutaka Hattori
Beomseok Jeon
Matthew J. Farrer
SNCA Multiplication Investigators of the GEoPD Consortium

Frontiers in Neurology

doi 10.3389/fneur.2018.01021

7,918 views
101 citations

Mini Review

Published on 03 Dec 2018

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

in Neurogenetics

Clara D. M. van Karnebeek
Bryan Sayson
Jessica J. Y. Lee
Laura A. Tseng
Nenad Blau
Gabriella A. Horvath
Carlos R. Ferreira

Frontiers in Neurology

doi 10.3389/fneur.2018.01016

19,694 views
35 citations

Original Research

Published on 19 Nov 2018

Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy

in Neurogenetics

Miriam Kessi
Juan Xiong
Liwen Wu
Lifen Yang
Fang He
Chen Chen
Nan Pang
Haolin Duan
Wen Zhang
Ahmed Arafat

Frontiers in Neurology

doi 10.3389/fneur.2018.00947

6,887 views
28 citations