Shinjiro Akaboshi

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto et al. · Human Mutation · 2003 · 143 citations · Full text

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

Toshiyuki Yamamoto, Eiji Nanba, Haruaki Ninomiya et al. · Human Genetics · 1999 · 87 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)

Hiroyuki Torisu, Toshiyuki Yamamoto, Takehisa Fujiwaki et al. · American Journal of Medical Genetics Part A · 2004 · 78 citations

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms

Paola Blasi, Pietro Pilo Boyl, Mario Ledda et al. · Molecular Genetics and Metabolism · 2002 · 56 citations

Promoter Region, Cellular Enzymology, Biochemistry +8

The carbohydrate deficient glycoprotein syndrome in three Japanese children

Kousaku Ohno, Isao Yuasa, Shinjiro Akaboshi et al. · Brain and Development · 1992 · 54 citations

Metabolic Syndrome, Nutrition, Japanese Children +7