Expanding mutational and phenotypic spectrum of CST3-related leukoencephalopathy: a novel family and literature review.

Teaching NeuroImage: an imaging clue for neuronal intranuclear inclusion disease.

Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a case report and literature review.

Adult-onset neuronal intranuclear inclusion disease initially presenting with prominent gastrointestinal symptoms: a case report.

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

Cerebral structure and function changes in adult neuronal intranuclear inclusion disease: a study of 16 patients.

Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLC.

Recurrent migraine with visual aura as the primary phenotype of familial neuronal intranuclear inclusion disease.

PML targets and resolves structured protein inclusions to mitigate neurodegeneration.

NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.

Case Report: Distinctive features of cognitive dysfunction and amelioration by antiseizure medication in neuronal intranuclear inclusion disease.

The Hsp40 cochaperone DNAJC7 regulates polyglutamine aggregation and exhibits context-dependent effects on polyglycine aggregation.

Neuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.

Astrocyte-vascular interactions are disturbed in cerebral white matter of adult-onset neuronal intranuclear inclusion disease.

Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.

Proteomic Landscape of Sweat Glands in Neuronal Intranuclear Inclusion Disease Reveals a Pathogenic Triad of Abnormal Autophagy, Mitochondrial Dysfunction, and a Failed Oxidative Stress Response.

Neuronal intranuclear inclusion disease with stroke-mimicking onset: a case report and systematic review.

Plasma p-tau species are elevated in presymptomatic and symptomatic neuronal intranuclear inclusion disease.

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease.

Precise excision of expanded GGC repeats in NOTCH2NLC via CRISPR/Cas9 for treating neuronal intranuclear inclusion disease.

Long-Standing Corticomedullary Hyperintensities in a Patient with Probable Neuronal Intranuclear Inclusion Disease.

Neuronal Intranuclear Inclusion Disease Mimicking Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Case Report.

Episodic encephalopathy in NOTCH2NLC-related neuronal intranuclear inclusion disease: Clinical spectrum and a proposed classification framework.

Neuronal intranuclear inclusion disease presenting with recurrent dizziness and headache: a case report with 5-year follow-up.

[A case of neuronal intranuclear inclusion disease presenting with leukoencephalopathy after the diagnosis of Charcot-Marie-Tooth disease type 4C].

[Neuronal intranuclear inclusion disease diagnosed by brain biopsy: a clinicopathological analysis of seven cases].

Modeling neuronal intranuclear inclusion disease: A review of animal and human-derived cellular models and mechanistic insights.

[A case of neuronal intranuclear inclusion disease with coexisting Alzheimer's disease biomarker signature in cerebrospinal fluid].

Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC.

The imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS).

Inflammation in Neuronal Intranuclear Inclusion Disease (NIID): mechanisms, biomarkers, and therapeutic implications.

Type B Fibers: A Novel Ultrastructural Biomarker for Cognitive Impairment in Neuronal Intranuclear Inclusion Disease.

Neuronal intranuclear inclusion disease with recurrent encephalitis.

[A case of neuronal intranuclear inclusion disease diagnosed 19 years after onset through clinical re-evaluation].

HnRNP M expression rescues neurodegeneration in neuronal intranuclear inclusion disease mouse model by restoring dysregulated RNA splicing and transcription.

Adult-onset neuronal intranuclear inclusion disease (NIID) combined with acute ischaemic stroke: a case report.

Dual diagnosis at the neuro-immune interface: a case report of neuronal intranuclear inclusion disease with acute anti-CASPR2 encephalitis.

Neuronal Intranuclear Inclusion Disease.

The Hsp40 co-chaperone DNAJC7 modifies polyglutamine but not polyglycine aggregation.

Neuronal intranuclear inclusion disease with subtle imaging findings: a case report and literature review.

Neuronal intranuclear inclusion disease complicated by acute middle cerebral artery infarction: A case report.

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics.

Neuronal intranuclear inclusion disease: a dynamic evolution of MRI in 8 years and mimicker of benign paroxysmal positional vertigo.

Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.

Generation of an induced pluripotent stem cell line (HZSMHCi002-A) from a patient with neuronal intranuclear inclusion disease carrying GGC repeat expansion in the NOTCH2NLC gene.

Application of Oral Mucosal Epithelial Cells in Noninvasive Pathological Diagnosis of Neuronal Intranuclear Inclusion Disease.

Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.

Psychiatric-onset neuronal intranuclear inclusion disease in a psychiatry-based dementia-enriched cohort in Japan.

Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing.

Vascular small fiber neuropathy in neuronal intranuclear inclusion disease.

TAF15 and Transportin 1 in Intranuclear Inclusions of Neuronal Intranuclear Inclusion Disease.

Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease.

Neuronal Intranuclear Inclusion Disease: A Confirmed Case Report and Analysis of MRI Characteristics in Three Typical Cases.

Recurrent Cortical Encephalitis-Like MRI Lesion in European Descent Patient with Neuronal Intranuclear Inclusion Disease.

Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.

Identification of small fiber neuropathy in neuronal intranuclear inclusion disease: A clinicopathological study.

uN2CpolyG-mediated p65 nuclear sequestration suppresses the NF-κB-NLRP3 pathway in neuronal intranuclear inclusion disease.

A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report.

Spatial and Temporal Distribution of White Matter Lesions in NOTCH2NLC-Related Neuronal Intranuclear Inclusion Disease.

Case report: 10-year follow-up of a patient with neuronal intranuclear inclusion disease and a literature review.

Peripheral neuropathy in neuronal intranuclear inclusion disease: a clinical and electrophysiological cross-sectional study.

Neuronal intranuclear inclusion disease with subclinical peripheral neuropathy: A case report.

Episodic headaches and cognitive decline: uncovering neuronal intranuclear inclusion disease in a young patient.

Peripheral nerve excitability abnormalities in Neuronal Intranuclear Inclusion Disease: Assessment with histopathological analysis.

A case report of neuronal intranuclear inclusion disease and literature review.

NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.

Neuronal Intranuclear Inclusion Disease with a Corneal Disorder: A Case Report.

Abnormalities along the cortico-medullary junction on brain MRI caused by 1,2-dichloroethane-induced toxic encephalopathy.

Neuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report.

[Clinical characteristics of urinary system symptoms in 11 patients with neuronal intranuclear inclusion disease].

CGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum.

Familial adult-onset neuronal intranuclear inclusion disease: A case report and literature review.

Diffusion and functional MRI reveal microstructural and network connectivity impairment in adult-onset neuronal intranuclear inclusion disease.

Efficacy of deep brain stimulation for neuronal intranuclear inclusion disease tremor-dominant subtype.

Neuronal intranuclear inclusion disease in one family: clinical diversity and diagnostic challenges.

Cerebral microbleeds in Taiwanese patients with neuronal intranuclear inclusion disease.

Stroke-like episodes in patients with adult-onset neuronal intranuclear inclusion disease and patients with late-onset MELAS: A comparative study.

Retrospective review of bladder biopsy instead of skin biopsy provided clue for the diagnosis of neuronal intranuclear inclusion disease.

Case report: Sacral neuromodulation for neurogenic lower urinary tract dysfunction in patient with neuronal intranuclear inclusion disease.

GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy.

Microglia contribute to polyG-dependent neurodegeneration in neuronal intranuclear inclusion disease.

A patient with neuronal intranuclear inclusion disease combined with hypertension accompanied by elevated catecholamines.

The 5HT4R agonist velusetrag efficacy on neuropathic chronic intestinal pseudo-obstruction in PrP-SCA7-92Q transgenic mice.

[Clinical and genetic analysis of a patient with Neuronal intranuclear inclusion body disease characterized by cortical enhancement in the posterior brain region].

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Clinical and multimodal imaging features of adult-onset neuronal intranuclear inclusion disease.

Nerve conduction features may serve as a diagnostic clue for neuronal intranuclear inclusion disease.

Temporal Changes in 18 F-FDG PET/CT in Familial Neuronal Intranuclear Inclusion Disease, Based on the Clinical Course.

Mapping macrostructural and microstructural brain alterations in patients with neuronal intranuclear inclusion disease.

Adult-onset neuronal intranuclear inclusion disease presenting with acute encephalitis-like episode and without characteristic hyperintensities on MR-DWI: a case report.

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report.

Advances of NOTCH2NLC Repeat Expansions and Associated Diseases: A Bibliometric and Meta-analysis.

Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review.

Ultra-high-field 7-Tesla magnetic resonance imaging in fragile X tremor/ataxia syndrome (FXTAS).

Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.

Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC-Related GGC Repeat Expansion Disorders.

Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.

Immune system involvement in neuronal intranuclear inclusion disease.

Value of neutrophil-to-lymphocyte ratio in neuronal intranuclear inclusion disease.

Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease.

The predominance of "astrocytic" intranuclear inclusions in neuronal intranuclear inclusion disease manifesting encephalopathy-like symptoms: A case series with brain biopsy.

A rare stroke mimic: neuronal intranuclear inclusion disease.

Neuronal intranuclear inclusion disease misdiagnosed as Parkinson's disease: a case report.

Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up.

Adult-type neuronal intranuclear inclusion disease with limb tremor onset: a case report.

Neuronal Intranuclear Inclusion Disease with NOTCH2NLC GGC Repeat Expansion: A Systematic Review and Challenges of Phenotypic Characterization.

Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease.

A case report of neuronal intranuclear inclusion disease presenting with urinary incontinence.

Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series.

Neuronal intranuclear inclusion disease with cerebellar white matter tau uptake and incidental meningioma.

Plasma neurofilament light as a promising biomarker in neuronal intranuclear inclusion disease.

Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress.

Neuronal intranuclear inclusion disease with multisystem involvement after long-term bladder dysfunction: a case report.

MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease.

Neuronal Intra-nuclear Inclusion Disease.

Utility of labial salivary gland biopsy in the histological diagnosis of neuronal intranuclear inclusion disease.

MRI features of neuronal intranuclear inclusion disease, combining visual and quantitative imaging investigations.

Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.

Skin biopsy and neuronal intranuclear inclusion disease.

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models.

Not your usual neurodegenerative disease: a case report of neuronal intranuclear inclusion disease with unconventional imaging patterns.

Neuronal intranuclear inclusion disease in a 66-year-old woman.

A case of unusual renal manifestation in a patient with neuronal intranuclear inclusion disease treated with steroids.

Unilateral Wing-Beating Tremor in Neuronal Intranuclear Inclusion Disease.

Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients.

Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report.

Characteristics of autonomic dysfunction in neuronal intranuclear inclusion disease.

A case report of neuronal intranuclear inclusion disease (NIID) with MELAS-like imaging findings.

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.

Unilateral Hemispheric Edema and Hyperperfusion in Neuronal Intranuclear Inclusion Disease.

Case report: Neuronal intranuclear inclusion disease presenting with acute encephalopathy.

Genetic Movement Disorders Commonly Seen in Asians.

Rapidly progressive adult-onset neuronal intranuclear inclusion disease beginning with autonomic symptoms: a case report.

First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual.

Recovery after Prolonged Disturbance of Consciousness and Repeated Cerebral Perfusion Changes in Neuronal Intranuclear Inclusion Disease.

A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease.

NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review.

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.

The clinical characteristics of neuronal intranuclear inclusion disease and its relation with inflammation.

Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease.

A Rare Case of Suspected Neuronal Intranuclear Inclusion Disease Requiring Differentiation From Neuro-Behçet's Disease.

Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions.

Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.

NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.

Neuronal intranuclear inclusion disease with neuroimaging mimicking MELAS.

Neuronal intranuclear inclusion disease: a case report and literature review.

A case report of neuronal intranuclear inclusion disease with paroxysmal peripheral neuropathy-like onset lacking typical signs on diffusion-weighted imaging.

GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation.

Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC.

Current advances in neuronal intranuclear inclusion disease.

A comment on a case report about perfusion abnormality in neuronal intranuclear inclusion disease with stroke-like episode.

Skin biopsies for diagnosing neuronal intranuclear inclusion disease: A retrospective study of 12 cases.

Neuronal intranuclear inclusion disease mimicking progressive supranuclear palsy.

Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral Sclerosis.

Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.

Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease.

General Anesthesia in a Patient With Neuronal Intranuclear Inclusion Disease: A Case Report.

Unraveling rare form of adult-onset NIID by characteristic brain MRI features: A single-center retrospective review.

Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease.

Clinical characteristics of two patients with neuronal intranuclear inclusion disease and literature review.

Clinical-neuroimaging-pathological relationship analysis of adult onset Neuronal Intranuclear Inclusion Disease (NIID).

CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease.

Typical imaging manifestation of neuronal intranuclear inclusion disease in a man with unsteady gait: A case report.

Neuropathological features of adult-onset neuronal intranuclear inclusion disease with fluid-attenuated inversion recovery high-intensity signals in the cerebellar paravermal area from an early stage: A case report.

Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease.

Case report: Two siblings with neuronal intranuclear inclusion disease exhibiting distinct clinicoradiological findings.

Perfusion abnormality in neuronal intranuclear inclusion disease with stroke-like episode: A case report.

Recurrent headache and visual symptoms in a young man: a rare neuronal intranuclear inclusion disease case report.

Adult-Onset Neuronal Intranuclear Inclusion Disease with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like (MELAS-like) Episode: A Case Report and Review of Literature.

Acute Reversible Encephalopathy with Neuronal Intranuclear Inclusion Disease Diagnosed by a Brain Biopsy: Inferring the Mechanism of Encephalopathy from Radiological and Histological Findings.

Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy.

Deep Brain Stimulation on Neuronal Intranuclear Inclusion Disease-Related Tremor: A Double-Edged Impact?

Generation of an induced pluripotent stem cell JTUi005-A from a patient with neuronal intranuclear inclusion disease.

Intermediate-length CGG repeat expansion in NOTCH2NLC is associated with pathologically confirmed Alzheimer's disease.

NOTCH2NLC expanded GGC repeats in patients with cerebral small vessel disease.

CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.

Diffuse Cortical Injury and Basal Ganglia High Signals on Diffusion-Weighted Imaging in Neuronal Intranuclear Inclusion Disease.

Imaging findings and pathological correlations of subacute encephalopathy with neuronal intranuclear inclusion disease-Case report.

Clinical and mechanism advances of neuronal intranuclear inclusion disease.

Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease.

First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing.

Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.

Teaching NeuroImage: Occipital Cortical Enhancement During Encephalopathy-like Episode in Neuronal Intranuclear Inclusion Disease.

Clinical features and reclassification of essential tremor with NOTCH2NLC GGC repeat expansions based on a long-term follow-up.

Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.

Case report: Adult-onset neuronal intranuclear inclusion disease with an amyotrophic lateral sclerosis phenotype.

DNA hypermethylation of NOTCH2NLC in neuronal intranuclear inclusion disease: a case-control study.

Absence of diffusion-weighted imaging abnormalities in a patient with neuronal intranuclear inclusion disease.

Teaching NeuroImage: Paravermal Lesions in Neuronal Intranuclear Inclusion Disease.

Generation of an induced pluripotent stem cell line (ZZUi036-A) derived from skin fibroblasts of a Neuronal intranuclear inclusion disease patient with GGC repeat expansion in the NOTCH2NLC gene.

Neuronal Intranuclear Inclusion Disease-Related Neurotrophic Keratitis: A Case Report.

The polyG diseases: a new disease entity.

Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease.

Cognitive Dysfunction in Repeat Expansion Diseases: A Review.