Junji Nishimoto

Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease

Norio Sakai, Koji Inui, N Tatsumi et al. · Journal of Neurochemistry · 1996 · 189 citations

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa et al. · Human Mutation · 2003 · 137 citations

Down Syndrome, Sotos Syndrome, Developmental Anomaly +14

Krabbe Disease: Isolation and Characterization of a Full-Length cDNA for Human Galactocerebrosidase

Norio Sakai, Koji Inui, Noriko Fujii et al. · Biochemical and Biophysical Research Communications · 1994 · 101 citations

Biology, Full-length Cdna, Human Galactocerebrosidase +4

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

Junji Nishimoto, Eiji Nanba, Koji Inui et al. · PubMed · 1991 · 66 citations

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

Noriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara et al. · The American Journal of Human Genetics · 2003 · 51 citations · Full text

Sotos Syndrome, Chromatid Rearrangements, Cytogenetics +9