Chihiro Ohba
Yokohama, Japan
Last Updated: 09/26/2026
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Found 37 publications
Long-term clinical observation of patients with heterozygous KIF1A variants.
Journal: American journal of medical genetics. Part A
Published: March 10, 2024
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 10, 2022
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Journal: Nature communications
Published: June 10, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Journal: Journal of medical genetics
Published: October 02, 2018
Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.
Journal: Molecular genetics & genomic medicine
Published: September 26, 2018
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Journal: Clinical genetics
Published: December 21, 2017
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Journal: Annals of clinical and translational neurology
Published: November 20, 2017
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Journal: American journal of human genetics
Published: November 13, 2017
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Journal: Journal of human genetics
Published: October 05, 2017
Last Updated: 09/26/2026