Akira Sudo

Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy

Jun‐ichi Takanashi, Hiroshi Oba, A. James Barkovich et al. · Neurology · 2006 · 241 citations

Medicine, Neurology, Neuroscience +17

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal, Kati J. Buckingham, Sarah Ng et al. · American Journal of Medical Genetics Part A · 2011 · 196 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>STXBP1</i> mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada et al. · Epilepsia · 2010 · 155 citations

Medicine, Genetics, Molecular Genetics +16

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Yoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa et al. · Neurogenetics · 2012 · 85 citations

Life Sciences, Genetics, Neurology +8

Validation of Gene Therapy for Mutant Mitochondria by Delivering Mitochondrial RNA Using a MITO-Porter

Eriko Kawamura, Minako Maruyama, Jiro Abe et al. · Molecular Therapy — Nucleic Acids · 2020 · 82 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +13