Eiichiro Uyama

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada, Caroline Andrews, Wai‐Man Chan et al. · Nature Genetics · 2003 · 262 citations

Medicine, Genetics, Molecular Genetics +14

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome

S. Aono, Hiroomi Keino, Yasukazu Yamada et al. · The Lancet · 1995 · 193 citations

Life Sciences, Genetics, Molecular Genetics +8

Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndrome

Mohammad A. Karim, Koji Suzuki, Kazuyoshi Fukai et al. · American Journal of Medical Genetics · 2002 · 190 citations

Life Sciences, Genetics, Pediatrics +14

Genetic localization of the familial adult myoclonic epilepsy ( <i>FAME</i> ) gene to chromosome 8q24

Nikki Plaster, Eiichiro Uyama, Miki Uchino et al. · Neurology · 1999 · 120 citations

Medicine, Genetics, Neurology +17

Mammalian, Yeast, Bacterial, and Chemical Chaperones Reduce Aggregate Formation and Death in a Cell Model of Oculopharyngeal Muscular Dystrophy

Yi Ping Bao, Lynnette J. Cook, Dominic G. O’Donovan et al. · Journal of Biological Chemistry · 2002 · 111 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16