Cover Image

Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China

ABSTRACT Importance Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited. Objective To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, pr...

Full description

Saved in:

Bibliographic Details
Main Authors:	Shen Zhang (Author), Weihua Zhang (Author), Changhong Ding (Author), Xiaotun Ren (Author), Fang Fang (Author), Yun Wu (Author)
Format:	Book
Published:	Wiley, 2024-09-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Aicardi-Goutieres Syndrome
by: J Gordon Millichap
Published: (1999)

Interferon Biomarkers in Aicardi-Goutieres Syndrome
by: J Gordon Millichap, et al.
Published: (2014)

MRI Features Predictive of Aicardi-Goutieres Syndrome
by: J Gordon Millichap
Published: (2015)

Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
by: De Wu, et al.
Published: (2021)

Aicardi-Goutières syndrome: Phenotypic and genetic spectrum in a series of three cases
by: Esther Eugenia Moreno Medinilla, et al.
Published: (2019)

A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation
by: Zheng Chenhan, et al.
Published: (2023)

Neonatal onset Aicardi-Goutières syndrome with congenital corneal edema, expanding the phenotype
by: Romit Jain, et al.
Published: (2021)

Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test
by: Chikako Senju, et al.
Published: (2022)

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation
by: Marco Cattalini, et al.
Published: (2021)

Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib
by: Abirami Pararajasingam, et al.
Published: (2022)

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome
by: Cuili Yi, et al.
Published: (2020)

Pediatric dentistry approach in a child with Aicardi-Goutières Syndrome type 2: A case report and literature review
by: Melis Arda Sözüöz, et al.
Published: (2024)

Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib
by: Wei Wang, et al.
Published: (2023)

Síndrome de Aicardi-Goutières: espectro fenotípico y genético en una serie de 3 casos
by: Esther Eugenia Moreno Medinilla, et al.
Published: (2019)

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with <it>TREX1</it> mutation in 4 family members
by: Ryder Clive, et al.
Published: (2011)

Aicardi syndrome
by: Saika Amreen, et al.
Published: (2018)

Clinical heterogeneity among a three-generation Japanese family with D18N <it>TREX1</it> mutation for Aicardi-Goutières syndrome / familial chilblain lupus
by: Heike T, et al.
Published: (2011)

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations
by: Lingjuan Liu, et al.
Published: (2022)

Aicardi syndrome: a case report
by: Jean Carlos de Oliveira Menezes, et al.

Aicardi syndrome - case report and literature review
by: Patrycja Ochman-Pasierbek, et al.
Published: (2024)

High levels of cerebrospinal fluid soluble triggering receptor expressed on myeloid cells 2 might be a biomarker of activity in pediatric patients with MOG-AD
by: Anna Zhou, et al.
Published: (2022)

Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow‐up
by: Weihua Zhang, et al.
Published: (2022)

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
by: Junling Wang, et al.
Published: (2021)

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
by: Junling Wang, et al.
Published: (2021)

Síndrome de aicardi: reporte de un caso
by: Juan Jerez
Published: (2023)

Immunotherapies for Anti-N-M-methyl-D-aspartate Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China
by: Shiqi Guang, et al.
Published: (2021)

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
by: Zhimei Liu, et al.
Published: (2019)

Clinical and Genetic Spectra of Inherited Liver Disease in Children in China
by: Youhong Fang, et al.
Published: (2021)

Molecular prevalence and genetic diversity analysis of Enterocytozoon bieneusi in humans in Hainan Province, China: High diversity and unique endemic genetic characteristics
by: Tiemin Zhang, et al.
Published: (2022)

Geo-spatial hotspots of hemorrhagic fever with renal syndrome and genetic characterization of Seoul variants in Beijing, China.
by: Shu-Qing Zuo, et al.
Published: (2011)

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes
by: Hua Li, et al.
Published: (2021)

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
by: Pengjiang Kang, et al.
Published: (2021)

Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study
by: Ding Juan-Juan MS, et al.
Published: (2024)

The role of genetic factors in pediatric myelodysplastic syndromes with different outcomes
by: Ying Li, et al.
Published: (2024)

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China
by: Tianhe Zhang, et al.
Published: (2024)

Genetic analysis of a pedigree with MECP2 duplication syndrome in China
by: Lan Zeng, et al.
Published: (2024)

Cost-effectiveness analysis of vaccination strategies against meningococcal disease for children under nine years of age in China
by: Haonan Zhang, et al.
Published: (2024)

Bilateral globus pallidus internus‐deep brain stimulation in a 5‐year‐old boy with SGCE‐related myoclonus dystonia syndrome
by: Xiaojuan Tian, et al.
Published: (2024)

Clinical and genetic characteristics of 36 children with Joubert syndrome
by: Yan Dong, et al.
Published: (2023)

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome
by: Lingxia Zhang, et al.
Published: (2021)