Manami Akasaka

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei et al. · The American Journal of Human Genetics · 2007 · 179 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August–December 2015

Pin Fee Chong, Ryutaro Kira, Harushi Mori et al. · Clinical Infectious Diseases · 2017 · 128 citations · Full text

Life Sciences, Infectious Diseases, Microbiology +17

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 52 citations · Full text

Life Sciences, Genetics, Neuroscience +13

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 · 37 citations · Full text

Life Sciences, Genetics, Immunology +17

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama et al. · Human Mutation · 2020 · 35 citations

Life Sciences, Genetics, Molecular Genetics +16