Yukiko Kondo

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 471 citations

Cell Autophagy, Neurodegenerative Diseases, Mitophagy +10

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki et al. · The American Journal of Human Genetics · 2011 · 169 citations · Full text

Autosomal-recessive Hypomyelinating Leukoencephalopathy, Neurological Disorder, Experimental Neuropathology +6

De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka et al. · Human Mutation · 2013 · 108 citations

Neurodegenerative Diseases, Mutant Slc35a2 Allele, Molecular Neuroscience +15

Effect of taurine on cholesterol metabolism in hamsters: Up-regulation of low density lipoprotein (LDL) receptor by taurine

Shigeru Murakami, Yukiko Kondo, Yoshihisa Toda et al. · Life Sciences · 2002 · 91 citations

Cholesterol Metabolism, Oxysterol, Medicine +7

<i>CASK</i> aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

Hirotomo Saitsu, Mitsuhiro Kato, Hitoshi Osaka et al. · Epilepsia · 2012 · 81 citations