ArticleNature genetics2019
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
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Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 295 papers, 3 of them syntheses that pooled it.
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295citing papers in PubMed, 3 pooled it
–field-weighted citation impact
What it found
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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
295 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Advances of NOTCH2NLC Repeat Expansions and Associated Diseases: A Bibliometric and Meta-analysis.Molecular neurobiology · 2024Pooled it
- Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review.Frontiers in neurology · 2024Pooled it
- Article
- Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo-Electron Tomography.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Neuronal Intranuclear Inclusion Disease Mimicking Familial ALS: A Multigenerational Case Series With Diagnostic Pitfalls.Muscle & nerve · 2026Article
- Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Clinical and imaging characteristics of NOTCH3-negative CADASIL-suspected patients with NOTCH2NLC GGC repeat expansions.Journal of human genetics · 2026Article
- Neural substrates of cognitive decline and tremor in neuronal intranuclear inclusion disease: a morphometric MRI study.Brain structure & function · 2026Article
- Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease.Annals of clinical and translational neurology · 2026Article
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.Cell genomics · 2026Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Distinctive hydrocephalus-like phenotype in NOTCH2NLC-related neuronal intranuclear inclusion disease: clinicopathological features and therapeutic implications.Acta neuropathologica communications · 2026Article
- NOTCH2NLA gene amplification is associated with poor prognosis in breast cancer.Discover oncology · 2026Article
- CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Quantification of disease-associated RNA tandem repeats by nanopore sensing.Nature communications · 2026Article
- Overflow urinary incontinence as an early manifestation of neuronal intranuclear inclusion disease (NIID): a case report.Journal of medical case reports · 2026Article
235 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
33 authors.
Jun SoneDepartment of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.ORCID http://orcid.org/0000-0002-9057-7609
Satomi MitsuhashiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Atsushi FujitaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeshi MizuguchiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kohei HamanakaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Keiko MoriDepartment of Neurology, Oyamada Memorial Spa Hospital, Yokkaichi, Japan.
Haruki KoikeDepartment of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Akihiro HashiguchiDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Hiroshi SugiyamaDepartment of Neurology, National Hospital Organization Utano National Hospital, Kyoto, Japan.
Yutaka KohnoDepartment of Neurology, Ibaraki Prefectural University of Health Sciences, Ibaraki, Japan.
Yoshihisa TakiyamaDepartment of Neurology, University of Yamanashi, Chuo, Yamanashi, Japan.
Kengo MaedaDepartment of Neurology, National hospital organization Higashi-Ohmi General Medical Center, Higashi-Ohmi, Japan.
Hiroshi DoiDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-5807-2523
Shigeru KoyanoDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hideyuki TakeuchiDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Michi KawamotoDepartment of Neurology, Kobe City Medical Center General Hospital, Kobe, Japan.
Nobuo KoharaDepartment of Neurology, Kobe City Medical Center General Hospital, Kobe, Japan.
Tetsuo AndoDepartment of Neurology, Anjo Kosei Hospital, Anjo, Japan.
Toshiaki IedaDepartment of Neurology, Yokkaichi Municipal Hospital, Yokkaichi, Japan.
Yasushi KitaDepartment of Neurology, Hyogo Brain and Heart Center, Himeji, Japan.
Norito KokubunDepartment of Neurology, Dokkyo Medical University, Tochigi, Japan.
Yoshio TsuboiDepartment of Neurology, Fukuoka University, Fukuoka, Japan.
Kazutaka KatohResearch Institute for Microbial Diseases, Osaka University, Suita, Japan.ORCID http://orcid.org/0000-0003-4133-8393
Yoshihiro KinoDepartment of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, Tokyo, Japan.
Masahisa KatsunoDepartment of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Yasushi IwasakiDepartment of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Mari YoshidaDepartment of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Fumiaki TanakaDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ikuo K SuzukiDepartment of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
Martin C FrithArtificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology, Tokyo, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp.ORCID http://orcid.org/0000-0001-9846-6500
Gen SobueDepartment of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. sobueg@med.nagoya-u.ac.jp.ORCID http://orcid.org/0000-0003-4769-5922
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease that is characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The wide range of clinical manifestations in NIID makes ante-mortem diagnosis difficult
Indexed as
Linkage DisequilibriumAdolescentAdultAgedBrainCase-Control StudiesFemaleGenetic MarkersHigh-Throughput Nucleotide SequencingHumansIntranuclear Inclusion BodiesMaleMiddle AgedNeurodegenerative DiseasesPedigreeReceptors, NotchGenetic MarkersReceptors, Notch
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PMID
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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.