Case Report

Published on 24 Jan 2024

A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review

in Neurogenetics

Siyuan Jing
Mou Peng
Yuping He
Yimin Hua
Jinrong Li
Yifei Li

Frontiers in Neurology

doi 10.3389/fneur.2024.1343025

1,199 views
1 citation

Original Research

Published on 12 Jan 2024

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

in Neurogenetics

Magdalena Badura-Stronka
Katarzyna Wołyńska
Anna Winczewska-Wiktor
Justyna Marcinkowska
Dagmara Karolewska
Danuta Tomkowiak-Kędzia
Michał Piechota
Marta Przyborska
Natalia Kochalska
Barbara Steinborn

Frontiers in Neurology

doi 10.3389/fneur.2023.1316933

2,550 views

Review

Published on 05 Jan 2024

ATP13A2 (PARK9) and basal ganglia function

in Neurogenetics

Kristina M. Croucher
Sheila M. Fleming

Frontiers in Neurology

doi 10.3389/fneur.2023.1252400

3,321 views
4 citations

Mini Review

Published on 21 Dec 2023

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

in Neurogenetics

Giovanna Scorrano
Laura Battaglia
Rossana Spiaggia
Antonio Basile
Stefano Palmucci
Pietro Valerio Foti
Emanuele David
Franco Marinangeli
Ilaria Mascilini
Antonio Corsello

Frontiers in Neurology

doi 10.3389/fneur.2023.1301147

2,015 views
2 citations

Original Research

Published on 14 Dec 2023

The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study

in Neurogenetics

Benjamin C. Cox
Jennifer Y. Pearson
Jay Mandrekar
Ralitza H. Gavrilova

Frontiers in Neurology

doi 10.3389/fneur.2023.1298569

2,755 views

Case Report

Published on 12 Dec 2023

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report

in Neurogenetics

Miao Sun
Yingjie Dai

Frontiers in Neurology

doi 10.3389/fneur.2023.1308289

1,579 views
1 citation

Original Research

Published on 07 Dec 2023

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

in Neurogenetics

Rosangela Ferese
Simona Scala
Antonio Suppa
Rosa Campopiano
Francesco Asci
Alessandro Zampogna
Maria Antonietta Chiaravalloti
Annamaria Griguoli
Marianna Storto
Alba Di Pardo

Frontiers in Neurology

doi 10.3389/fneur.2023.1296924

1,603 views
1 citation

Case Report

Published on 05 Dec 2023

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

in Neurogenetics

Ida Cursio
Sabrina Siliquini
Claudia Carducci
Giovanni Bisello
Mario Mastrangelo
Vincenzo Leuzzi
Mariarita Bertoldi
Carla Marini

Frontiers in Neurology

doi 10.3389/fneur.2023.1284339

1,738 views
2 citations

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

1,518 views

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

2,705 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

1,903 views
1 citation

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

1,391 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

1,185 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

1,459 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

1,363 views

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

2,510 views

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Articles

A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

ATP13A2 (PARK9) and basal ganglia function

Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations

Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

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