Kazuhiro Haginoya

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Yukiko Hayashi, Chie Matsuda, Megumu Ogawa et al. · Journal of Clinical Investigation · 2009 · 391 citations · Full text

Muscle Hypertrophy, Genetics, Cellular Physiology +19

Clinical spectrum of <i>SCN2A</i> mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka et al. · Neurology · 2013 · 196 citations

Phenotypic Spectrum of <i>COL4A1</i> Mutations: Porencephaly to Schizencephaly

Yuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato et al. · Annals of Neurology · 2012 · 171 citations

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada et al. · The American Journal of Human Genetics · 2010 · 151 citations · Full text

Mendelian Disorder, Severe Cerebral Hypomyelination, Neurological Disorder +10

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