Satoko Miyatake

Brain volume analyses and somatosensory evoked potentials in multiple system atrophy

Yoshikazu Ugawa, Hitoshi Mochizuki, Hajime Tanabe, 2010, Journal of Neurology.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Naomichi Matsumoto, Masaya Kubota, Mitsuhiro Kato, 2013, American journal of human genetics.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

Kengo Kinoshita, Masao Nagasaki, Katsushi Tokunaga, 2019, Journal of Human Genetics.

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Naomichi Matsumoto, Mitsuhiro Kato, N. Matsumoto, 2015, Scientific Reports.

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Martin C. Frith, Naomichi Matsumoto, Yoshihiro Kino, 2019, Genome Biology.