Kenji Yokochi
Hamamatsu, Japan
Last Updated: 09/26/2026
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Found 33 publications
INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Journal: Annals of clinical and translational neurology
Published: August 06, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Journal: NPJ genomic medicine
Published: March 11, 2025
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
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Journal: American journal of human genetics
Published: March 27, 2022
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Journal: European journal of medical genetics
Published: November 09, 2020
The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.
Journal: Neuropediatrics
Published: January 30, 2019
Nusinersen helps restore walking ability in childhood spinal muscular atrophy.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 04, 2018
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Journal: Annals of neurology
Published: April 27, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Journal: Journal of human genetics
Published: March 11, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Journal: Human mutation
Published: March 08, 2018
Last Updated: 09/26/2026