Frontiers in Genetics | Neurogenomics

Case Report

Published on 17 Jan 2025

Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child

in Neurogenomics

Dandan Shi
Nannan Li
Caifang Fan
Qiang Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1508922

101 views

Correction

Accepted on 08 Jan 2025

Frontiers Corrigendum Template for Authors

in Neurogenomics

Taha Alqahtani
Rekha Khandia
Nidhi Puranik
Ali M Alqahtani
Yahia Alghazwani
SAAD ALSHEHRI
KUMARAPPAN CHIDAMBARAM
Mohammad Amjad Kamal

Frontiers in Genetics

doi 10.3389/fgene.2025.1556255

Case Report

Published on 07 Jan 2025

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

in Neurogenomics

Menglin Tan
Huiyi Huo
Jieming Feng
Chandi Wang
Suhua Jiang

Frontiers in Genetics

doi 10.3389/fgene.2024.1522203

304 views

Editorial

Published on 10 Dec 2024

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

in Neurogenomics

Robert Friedman
Yasin Mamatjan
Cuiping Pan
Patrícia Pelufo Silveira
Margarita Zachariou

Frontiers in Genetics

doi 10.3389/fgene.2024.1520148

479 views

Editorial

Published on 29 Oct 2024

Editorial: Epigenetic modification in neurological diseases

in Neurogenomics

Mojgan Rastegar

Frontiers in Genetics

doi 10.3389/fgene.2024.1506551

645 views

Original Research

Published on 23 Sep 2024

Unveiling the role of IGF1R in autism spectrum disorder: a multi-omics approach to decipher common pathogenic mechanisms in the IGF signaling pathway

in Neurogenomics

Kang Yang
Tian Zhang
Ruize Niu
Liyang Zhao
Zhonghe Cheng
Jun Li
Lifang Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1483574

1,408 views

Editorial

Published on 11 Sep 2024

Editorial: Diagnosis, animal models and therapeutic interventions for neuromuscular diseases

in Neurogenomics

Muthukumar Karuppasamy
Martine Tetreault
Jessica Rosati

Frontiers in Genetics

doi 10.3389/fgene.2024.1481705

505 views

Case Report

Published on 21 Aug 2024

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

in Neurogenomics

Christine Anna Dambietz
Andrea Doescher
Michael Heming
Anja Schirmacher
Bernhard Schlüter
Andrea Schulte-Mecklenbeck
Christian Thomas
Heinz Wiendl
Gerd Meyer zu Hörste
Sarah Wiethoff

Frontiers in Genetics

doi 10.3389/fgene.2024.1421952

1,110 views

Case Report

Published on 17 Jul 2024

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report

in Neurogenomics

Rie Tsuburaya-Suzuki
Sachiko Ohori
Kohei Hamanaka
Atsushi Fujita
Naomichi Matsumoto
Masako Kinoshita

Frontiers in Genetics

doi 10.3389/fgene.2024.1410979

1,229 views
1 citation

Original Research

Published on 19 Jun 2024

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

in Neurogenomics

Kevin E. Glinton
Charul Gijavanekar
Abbhirami Rajagopal
Laura P. Mackay
Kirt A. Martin
Phillip L. Pearl
K. Michael Gibson
Theresa A. Wilson
V. Reid Sutton
Sarah H. Elsea

Frontiers in Genetics

doi 10.3389/fgene.2024.1405468

1,805 views

Review

Published on 15 May 2024

Diagnostic efficacy of long non-coding RNAs in multiple sclerosis: a systematic review and meta-analysis

in Neurogenomics

Yongdong Wang
Jing Wang
Xinyin Zhang
Chengyan Xia
Zhiping Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1400387

1,075 views

Editorial

Published on 10 May 2024

Editorial: Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia volume II

in Neurogenomics

Francesca Luisa Conforti
Alan Edward Renton
Henry Houlden

Frontiers in Genetics

doi 10.3389/fgene.2024.1420029

899 views

Original Research

Published on 16 Apr 2024

Meta-analysis of differential gene expression in lower motor neurons isolated by laser capture microdissection from post-mortem ALS spinal cords

in Neurogenomics

William R. Swindell

Frontiers in Genetics

doi 10.3389/fgene.2024.1385114

2,613 views

Correction

Published on 10 Apr 2024

Corrigendum: Exploring the bi-directional relationship and shared genes between depression and stroke via NHANES and bioinformatic analysis

in Neurogenomics

Zhanghuan Yang
Maokun He
Qian Zhang
Shifu Li
Hua Chen
Di Liao

Frontiers in Genetics

doi 10.3389/fgene.2024.1405696

1,207 views

Case Report

Published on 09 Apr 2024

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

in Neurogenomics

Ruolin Li
Jiayi Yang
Jinfeng Ma
Aimei Zhang
Hongfang Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1373448

1,272 views

Case Report

Published on 06 Mar 2024

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review

in Neurogenomics

Fengji Cui
Tuoya Wulan
Qian Zhang
Victor Wei Zhang
Yuhua Jiang

Frontiers in Genetics

doi 10.3389/fgene.2024.1371282

2,182 views

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Articles

Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child

Frontiers Corrigendum Template for Authors

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

Editorial: Epigenetic modification in neurological diseases

Unveiling the role of IGF1R in autism spectrum disorder: a multi-omics approach to decipher common pathogenic mechanisms in the IGF signaling pathway

Editorial: Diagnosis, animal models and therapeutic interventions for neuromuscular diseases

Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Diagnostic efficacy of long non-coding RNAs in multiple sclerosis: a systematic review and meta-analysis

Editorial: Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia volume II

Meta-analysis of differential gene expression in lower motor neurons isolated by laser capture microdissection from post-mortem ALS spinal cords

Corrigendum: Exploring the bi-directional relationship and shared genes between depression and stroke via NHANES and bioinformatic analysis

Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review