Kyushu University Academic Staff Educational and Research Activities Database
List of Presentations
Last modified date:2022.07.12

Post-doctoral Fellow / Department of Clinical Medicine / Faculty of Medical Sciences


Presentations
1. Heterozygous missense mutation in SEC24A encoding a coat protein complexⅡ vesicle associated with autosomal dominant spinocerebellar ataxia.
2. Identification of the novel variant in DDHD1 from the patient with autosomal recessive spastic paraplegia.
3. Takuya Morikawa, Homozygous missense mutation in SEC24A encoding a coat protein complex II vesicle associated with autosomal dominant spinocerebellar ataxia, The 66th ASHG Annual Meeting, Vancouver, Canada, 2016.10.
4. Takuya Morikawa, Homozygous 4-bp deletion in the DDHD1 gene, resulting the complete deletion of DDHD domain, as a causative variant in a SPG28 patient, The 13th International Congress of Human Genetics, 2016.04.
5. A novel frameshift variant of DDHD1 and establishment of Ddhd1 knockout mice.
6. A novel recessive variant of DDHD1 responsible for a spastic paraplegia and establishment of Ddhd1 knockout mice.
7. Analysis of Ddhd1 knockout mice established by CRISPR/Cas9 system.
8. Ddhd1 knockout mice as a model for familial spastic paraplegia.