||Heterozygous missense mutation in SEC24A encoding a coat protein complexⅡ vesicle associated with autosomal dominant spinocerebellar ataxia.
||Identification of the novel variant in DDHD1 from the patient with autosomal recessive spastic paraplegia.
||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.
||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.
||A novel frameshift variant of DDHD1 and establishment of Ddhd1 knockout mice.
||A novel recessive variant of DDHD1 responsible for a spastic paraplegia and establishment of Ddhd1 knockout mice.
||Analysis of Ddhd1 knockout mice established by CRISPR/Cas9 system.
||Ddhd1 knockout mice as a model for familial spastic paraplegia.