Masaki Okubo
Yokohama, 2360004, Japan
Last Updated: 09/26/2026
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Found 10 publications
A case report of an individual with Creutzfeldt-Jakob disease characterized by prolonged isolated thalamic lesions and rare MM2-cortical-type pathology.
Journal: BMC neurology
Published: October 07, 2024
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: February 02, 2024
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Journal: Annals of neurology
Published: June 04, 2023
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Journal: Genomics
Published: June 24, 2022
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
Journal: NPJ genomic medicine
Published: March 30, 2022
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Journal: Brain : a journal of neurology
Published: January 20, 2021
Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".
Journal: Annals of neurology
Published: June 04, 2020
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Journal: Journal of the neurological sciences
Published: March 04, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Journal: Annals of neurology
Published: June 12, 2019
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Journal: Neurobiology of disease
Published: February 04, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026