Frontiers in Neurology | Neurogenetics

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

11,065 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

4,369 views
7 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

6,171 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

8,748 views
8 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

6,577 views
23 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

9,658 views
117 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

21,823 views
41 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

8,323 views
29 citations

344 articles

articles

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

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

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

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

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

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

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

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