Kiyoe Goto
Kashiwazaki, 9458585, Japan
Last Updated: 09/26/2026
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Found 8 publications
Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Journal: BMC medical genomics
Published: June 27, 2025
Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Journal: Internal medicine (Tokyo, Japan)
Published: February 03, 2022
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
Journal: Internal medicine (Tokyo, Japan)
Published: June 14, 2021
Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report.
Journal: Case reports in neurology
Published: September 17, 2020
Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1.
Journal: Internal medicine (Tokyo, Japan)
Published: February 27, 2020
Becker muscular dystrophy caused by exon 2-truncating mutation of DMD.
Journal: Human genome variation
Published: September 05, 2019
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
Journal: Congenital anomalies
Published: March 06, 2014
Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: January 12, 2013
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Last Updated: 09/26/2026