ArticleScience advances2022
Expression of expanded GGC repeats within
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In one paragraph
Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
3.4field-weighted citation impact, top 6% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review.Frontiers in neurology · 2024Pooled it
- A Second Pathogenic Protein, PolyGN2C-iso2, Reveals a Dual-Protein Pathology in Neuronal Intranuclear Inclusion Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Overflow urinary incontinence as an early manifestation of neuronal intranuclear inclusion disease (NIID): a case report.Journal of medical case reports · 2026Article
- ASO therapy rescues NOTCH2NLC GGC repeat expansion-induced genomic damage, 3D chromatin structural abnormalities, and senescence.Nature communications · 2026Article
- Cerebral structure and function changes in adult neuronal intranuclear inclusion disease: a study of 16 patients.Brain imaging and behavior · 2026Article
- Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.Acta neuropathologica communications · 2026Article
- PML targets and resolves structured protein inclusions to mitigate neurodegeneration.Nature cell biology · 2026Article
- GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.Nature genetics · 2026Article
- NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.Cell & bioscience · 2026Article
- Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.BMC neurology · 2026Article
- Precise excision of expanded GGC repeats in NOTCH2NLC via CRISPR/Cas9 for treating neuronal intranuclear inclusion disease.Nature communications · 2026Article
- Novel proteomics and neuropathology ofFrontiers in aging neuroscience · 2026Article
- Evolutionary implications ofBrain communications · 2026Article
- High burden of kidney involvement in neuronal intranuclear inclusion disease.Frontiers in neurology · 2026Article
- Article
- Modeling neuronal intranuclear inclusion disease: A review of animal and human-derived cellular models and mechanistic insights.Zoological research · 2025Review
- Inflammation in Neuronal Intranuclear Inclusion Disease (NIID): mechanisms, biomarkers, and therapeutic implications.Journal of neuroinflammation · 2025Review
- HnRNP M expression rescues neurodegeneration in neuronal intranuclear inclusion disease mouse model by restoring dysregulated RNA splicing and transcription.Cell & bioscience · 2025Article
- Type B Fibers: A Novel Ultrastructural Biomarker for Cognitive Impairment in Neuronal Intranuclear Inclusion Disease.Brain sciences · 2025Article
- Psychiatric-onset neuronal intranuclear inclusion disease in a psychiatry-based dementia-enriched cohort in Japan.Psychiatry and clinical neurosciences · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 4 institutions in 2 countries.
Qiong LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0002-2591-8550
Kailin ZhangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0001-9057-4427
Yunhee KangDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0001-5622-4570
Yangping LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Penghui DengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Yujing LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0002-4363-2484
Yun TianKey Laboratory of Hunan Province in Neurodegenerative Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Qiying SunKey Laboratory of Hunan Province in Neurodegenerative Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Yu TangDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Keqin XuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Yao ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0002-9482-4697
Jun-Ling WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Jifeng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Jia-Da LiCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0002-4236-3518
Kun XiaCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0001-8090-6002
Qingtuan MengMulti-Omics Research Center for Brain Disorders, The First Affiliated Hospital of University of South China, Hengyang, Hunan 421001, China.ORCID 0000-0002-6421-162X
Emily G AllenDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0003-0963-036X
Zhexing WenDepartment of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, GA 30322, USA.
Ziyi LiDepartment of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Hong JiangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0003-2812-4120
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0002-3393-8578
Ranhui DuanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China.
Bing YaoDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0002-3205-8130
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0003-2120-1576
Peng JinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0001-6137-6659
Yongcheng PanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.ORCID 0000-0001-5317-3675
Central South University · CNEmory University · USFirst Affiliated Hospital of University of South China · CNThe University of Texas MD Anderson Cancer Center · US
Funding
Molecular Basis of rCGG-Mediated NeurodegenerationR01NS051630 · NINDS · EMORY UNIVERSITY · PI NELSON, DAVID LOREN · 2006 to 2023
$9.8MThe FMR1 CGG repeat as functional element and therapeutic target in Fragile X associated disordersP50HD104463 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI ALLEN, EMILY GRAVES · 2020 to 2024
$9.0MProject 3P50HD104458 · NICHD · EMORY UNIVERSITY · PI JIN, PENG · 2020 to 2024
$8.1MDynamic DNA Modifications in Brain and DiseasesR35NS111602 · NINDS · EMORY UNIVERSITY · PI PENG JIN · 2019 to 2026
$6.5MNICHD NIH HHS P50 HD104458NICHD NIH HHS P50 HD104463NINDS NIH HHS R01 NS051630NINDS NIH HHS R35 NS111602
Abstract
GGC repeat expansions within
Indexed as
Intranuclear Inclusion BodiesNeurodegenerative DiseasesAnimalsDisease Models, AnimalHumansMiceReceptor, Notch2RNA-Binding ProteinsNotch2 protein, mouseReceptor, Notch2RNA-Binding Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.