Frontiers in Neurology | Neurogenetics

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

2,335 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

2,857 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

6,999 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

2,581 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

12,619 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

1,646 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

4,365 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

4,614 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

10,153 views
33 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

4,408 views
16 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

3,991 views
7 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

6,607 views
16 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

2,966 views
6 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

5,835 views
14 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

2,622 views
4 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

14,685 views
85 citations