Akihiko Miyauchi

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Karin Kojima, Takeshi Nakajima, Naoyuki Taga et al. · Brain · 2018 · 131 citations · Full text

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu et al. · The American Journal of Human Genetics · 2020 · 49 citations · Full text

Last Exon, Allelic Variant, Neurobiology Of Disease +9

Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

Yuma Yamada, Kana Somiya, Akihiko Miyauchi et al. · Scientific Reports · 2020 · 42 citations · Full text

A case of severe movement disorder with GNAO1 mutation responsive to topiramate

Saori SAKAMOTO, Yukifumi Monden, Ryoko Fukai et al. · Brain and Development · 2017 · 30 citations

Gnao1 Mutation Responsive, Genetics, Severe Movement Disorder +4

Novel biallelic <i><scp>SZT2</scp></i> mutations in 3 cases of early‐onset epileptic encephalopathy

Naomi Tsuchida, Mitsuko Nakashima, Akihiko Miyauchi et al. · Clinical Genetics · 2017 · 28 citations