Frontiers in Neurology | Neurogenetics

Case Report

Published on 01 Dec 2023

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

in Neurogenetics

Toby Charles Major
Eszter Sara Arany
Katherine Schon
Magdolna Simo
Veronika Karcagi
Jelle van den Ameele
Patrick Yu Wai Man
Patrick F. Chinnery
Catarina Olimpio
Rita Horvath

Frontiers in Neurology

doi 10.3389/fneur.2023.1292320

1,869 views
1 citation

Case Report

Published on 24 Nov 2023

Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review

in Neurogenetics

Hui Zhu
Shuyao Zhu
Qiong Jiang
Ying Pang
Yu Huang
Yan Chen
Ting Hou
Wenxin Deng
Xingyu Liu
Lan Zeng

Frontiers in Neurology

doi 10.3389/fneur.2023.1251467

3,509 views

Methods

Published on 16 Nov 2023

Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy

in Neurogenetics

Benoît Gouy
Adrien Decorsière
Sophie Desgraupes
Wenming Duan
Hong Ouyang
Yifan E. Wang
E. Ann Yeh
Alexander F. Palazzo
Theo J. Moraes
Sébastien Nisole

Frontiers in Neurology

doi 10.3389/fneur.2023.1282059

2,282 views
2 citations

Original Research

Published on 14 Nov 2023

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder

in Neurogenetics

Joseph R. Abraham
Frederick M. Allen
John Barnard
Daniela Schlatzer
Marvin R. Natowicz

Frontiers in Neurology

doi 10.3389/fneur.2023.1261125

1,593 views

Case Report

Published on 09 Nov 2023

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

in Neurogenetics

Audrey Pontrucher
Magalie Barth
Alban Ziegler
Juan Manuel Chao de la Barca
Delphine Mirebeau-Prunier
Pascal Reynier
Chadi Homedan

Frontiers in Neurology

doi 10.3389/fneur.2023.1266686

1,386 views

Editorial

Published on 27 Oct 2023

Editorial: Human brain banking – Bridging brain health and precision neurology

in Neurogenetics

Yue Huang
Qiao-Xin Li
Ling-Xiao Cao
Gang Wang
Daniel Kam Yin Chan
Conceicao Bettencourt
Adrienne E. Milward

Frontiers in Neurology

doi 10.3389/fneur.2023.1322200

1,670 views

Case Report

Published on 26 Oct 2023

Case report: Episodic ataxia without ataxia?

in Neurogenetics

Andrea Gaudio
Fabio Gotta
Clarissa Ponti
Francesca Sanguineri
Lucia Trevisan
Alessandro Geroldi
Serena Patrone
Chiara Gemelli
Corrado Cabona
Guja Astrea

Frontiers in Neurology

doi 10.3389/fneur.2023.1224241

1,669 views
1 citation

Case Report

Published on 20 Oct 2023

Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts

in Neurogenetics

Xi Chen
Haibo Qu
Qiang Yao
Xiaotang Cai
Tiantian He
Xuemei Zhang

Frontiers in Neurology

doi 10.3389/fneur.2023.1253398

2,754 views

Mini Review

Published on 13 Oct 2023

The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder

in Neurogenetics

Mohamed Adil Shah Khoodoruth
Foysal Ahammad
Yasser Saeed Khan
Farhan Mohammad

Frontiers in Neurology

doi 10.3389/fneur.2023.1283572

4,988 views
5 citations

Case Report

Published on 12 Oct 2023

Case report: Episodic psychosis caused by a novel SCP2 splicing mutation

in Neurogenetics

Haiyan Tang
Yingying Luo
Zhenchu Tang
Jianguang Tang
Jia Fang

Frontiers in Neurology

doi 10.3389/fneur.2023.1270793

1,686 views

Original Research

Published on 29 Sep 2023

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus

in Neurogenetics

Alexander Fröhlich
Lauren S. Hughes
Ben Middlehurst
Abigail L. Pfaff
Vivien J. Bubb
Sulev Koks
John P. Quinn

Frontiers in Neurology

doi 10.3389/fneur.2023.1273036

2,630 views
5 citations

Review

Published on 28 Sep 2023

Senolytic and senomorphic secondary metabolites as therapeutic agents in Drosophila melanogaster models of Parkinson’s disease

in Neurogenetics

Sean J. Miller
Rayyan Y. Darji
Sami Walaieh
Jhemerial A. Lewis
Robert Logan

Frontiers in Neurology

doi 10.3389/fneur.2023.1271941

5,669 views
3 citations

Case Report

Published on 27 Sep 2023

Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1

in Neurogenetics

Hui Zhang
Kai-Li Fan
Yue-Qi Zhang
Xiao-Yan Hao
Xiang-Zhen Yuan
Shu-Yun Zhang

Frontiers in Neurology

doi 10.3389/fneur.2023.1237847

2,025 views

Original Research

Published on 22 Sep 2023

Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment

in Neurogenetics

Malavika A. Nair
Zhiyv Niu
Nicholas N. Madigan
Alexander Y. Shin
Jeffrey S. Brault
Nathan P. Staff
Christopher J. Klein

Frontiers in Neurology

doi 10.3389/fneur.2023.1251885

4,324 views
2 citations

Case Report

Published on 22 Sep 2023

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

in Neurogenetics

Qihua Chen
Jianguang Tang
Hainan Zhang
Lixia Qin

Frontiers in Neurology

doi 10.3389/fneur.2023.1255128

1,523 views

Brief Research Report

Published on 20 Sep 2023

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript

in Neurogenetics

Christina Votsi
Pantelitsa Koutsou
Antonis Ververis
Anthi Georghiou
Paschalis Nicolaou
George Tanteles
Kyproula Christodoulou

Frontiers in Neurology

doi 10.3389/fneur.2023.1241195

2,583 views
2 citations

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Articles

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review

Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

Editorial: Human brain banking – Bridging brain health and precision neurology

Case report: Episodic ataxia without ataxia?

Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts

The shared genetic risk factors between Tourette syndrome and obsessive-compulsive disorder

Case report: Episodic psychosis caused by a novel SCP2 splicing mutation

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus

Senolytic and senomorphic secondary metabolites as therapeutic agents in Drosophila melanogaster models of Parkinson’s disease

Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1

Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript