Frontiers | Advances In Rare Central Nervous System Diseases: Genetics, Imaging Manifestations, And Mechanisms

Advances In Rare Central Nervous System Diseases: Genetics, Imaging Manifestations, And Mechanisms

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ORIGINAL RESEARCH

Published on 20 Dec 2023

Clinical characteristics and prognostic analysis of acute necrotizing encephalopathy of childhood: a retrospective study at a single center in China over 3 years

Yu Fang
Qiqi Gao
Wenwen Jin
Jianshun Li
Hao Yuan
Zhenlang Lin
Guoquan Pan
Wei Lin

Clinical characteristics and prognostic analysis of acute necrotizing encephalopathy of childhood: a retrospective study at a single center in China over 3 years

doi 10.3389/fneur.2023.1308044

2,967 views
4 citations

ORIGINAL RESEARCH

Published on 23 Aug 2023

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation

Jun Takei
Yujiro Higuchi
Masahiro Ando
Akiko Yoshimura
Jun-Hui Yuan
Natsumi Fujisaki
Takashi Tokashiki
Naomi Kanzato
Manabu Jonosono
6 more
Hiroshi Takashima

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation

doi 10.3389/fneur.2023.1241678

1,778 views
1 citation

ORIGINAL RESEARCH

Published on 09 Mar 2023

Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy

Wenjuan Zhou
Yuzhen Ouyang
Yuqiao Ji
Qiong Xi
Lingling Zhao

Genetic variants and phenotype analysis in a five-generation Chinese pedigree with PCDH19 female-limited epilepsy

doi 10.3389/fneur.2023.1107904

1,277 views
3 citations

CASE REPORT

Published on 07 Feb 2023

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

Emanuela Salzano
Marcello Niceta
Simone Pizzi
Francesca Clementina Radio
Martina Busè
Francesca Mercadante
Sabina Barresi
Arturo Ferrara
Cecilia Mancini
1 more
Maria Piccione

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

doi 10.3389/fneur.2023.1090082

1,222 views
2 citations

ORIGINAL RESEARCH

Published on 10 Aug 2022

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

Masahiro Ando
Yujiro Higuchi
Junhui H. Yuan
Akiko Yoshimura
Shuntaro Higashi
Mika Takeuchi
Takahiro Hobara
Fumikazu Kojima
Yutaka Noguchi
8 more
Hiroshi Takashima

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

doi 10.3389/fneur.2022.952493

2,907 views
9 citations

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