Makoto Funatsuka

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

Hirotsugu Oda, Kenji Nakagawa, Junya Abe et al. · The American Journal of Human Genetics · 2014 · 202 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +7

Treatment and Long-Term Prognosis of Myoclonic-Astatic Epilepsy of Early Childhood

Hirokazu Oguni, Teruyuki Tanaka, Keiko Hayashi et al. · Neuropediatrics · 2002 · 197 citations

EEG in Children with Early‐onset Benign Occipital Seizure Susceptibility Syndrome: Panayiotopoulos Syndrome

Mayu Ohtsu, Hirokazu Oguni, Kitami Hayashi et al. · Epilepsia · 2003 · 63 citations

A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Junya Abe, Kyoichi Nakamura, Ryuta Nishikomori et al. · Lara D. Veeken · 2013 · 36 citations · Full text

A loss‐of‐function mutation in the <i>SLC9A6</i> gene causes X‐linked mental retardation resembling Angelman syndrome

Yumi Takahashi, Kana Hosoki, Masafumi Matsushita et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2011 · 34 citations · Full text