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Last Updated: 08/17/2025
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Found 361 publications
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.
Journal: Stem cell research
Published: May 19, 2025
Reply to "Vascular small fiber neuropathy in neuronal intranuclear inclusion disease".
Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: May 05, 2025
Vascular small fiber neuropathy in neuronal intranuclear inclusion disease.
Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: April 17, 2025
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics.
Journal: Annals of clinical and translational neurology
Published: April 02, 2025
Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease.
Journal: Stem cell research
Published: March 12, 2025
Retinal degeneration as an initial manifestation in a patient with neuronal intranuclear inclusion disease.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: March 11, 2025
Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints.
Journal: Journal of neuromuscular diseases
Published: March 04, 2025
Recurrent Cortical Encephalitis-Like MRI Lesion in European Descent Patient with Neuronal Intranuclear Inclusion Disease.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: March 04, 2025
TAF15 and Transportin 1 in Intranuclear Inclusions of Neuronal Intranuclear Inclusion Disease.
Journal: Neuropathology and applied neurobiology
Published: February 08, 2025
Psychiatric-onset neuronal intranuclear inclusion disease in a psychiatry-based dementia-enriched cohort in Japan.
Journal: Psychiatry and clinical neurosciences
Published: February 07, 2025
Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing.
Journal: European journal of human genetics : EJHG
Published: January 30, 2025
Last Updated: 08/17/2025