Rie Miyata

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 272 citations · Full text

Cell Autophagy, Mendelian Disorder, Autoimmune Disease +9

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

Neocortical Layer Formation of Human Developing Brains and Lissencephalies: Consideration of Layer-Specific Marker Expression

Takashi Saito, Sae Hanai, Sachio Takashima et al. · Cerebral Cortex · 2010 · 76 citations

Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)

Rie Miyata, Naoyuki Tanuma, Masaharu Hayashi et al. · Brain and Development · 2011 · 74 citations

Neurological Disorder, Pathology, Reversible Splenial Lesion +6

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 67 citations · Full text