A. Miyauchi

发表

Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease.

T. Abe, H. Osaka, T. Yamagata, 2019, Mitochondrion.

Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy

H. Osaka, N. Shimozawa, T. Yamagata, 2021, JIMD reports.

Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies

H. Osaka, Ayumi Matsumoto, Y. Monden, 2018, Brain and Development.

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

H. Osaka, H. Harashima, Yuma Yamada, 2020, Scientific Reports.

Role of an adaptor protein Lin‐7B in brain development: possible involvement in autism spectrum disorders

K. Nagata, Ayumi Matsumoto, M. Momoi, 2015, Journal of neurochemistry.

ORIGINAL ARTICLE Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders

K. Nagata, Ayumi Matsumoto, M. Momoi, 2014 .

Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease

Hideki Uosaki, H. Osaka, Y. Kishita, 2023, Molecular genetics and metabolism reports.

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

Takeshi Nakajima, H. Mizukami, Mitsuhiro Kato, 2019, Brain : a journal of neurology.

Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy

A. Takata, N. Matsumoto, N. Miyake, 2017, Clinical Genetics.

Mesalazine allergy in a boy with ulcerative colitis: clinical usefulness of mucosal biopsy criteria

T. Yamagata, Takane Ito, J. Tulyeu, 2016, Clinical Journal of Gastroenterology.

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

H. Osaka, H. Harashima, Yuma Yamada, 2020, Scientific Reports.

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation

N. Matsumoto, H. Osaka, H. Saitsu, 2018, Brain and Development.

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

A. R. Mohamed, A. Takata, Y. Goshima, 2020, American journal of human genetics.

Two cases of DYNC1H1 mutations with intractable epilepsy

K. Kawai, Mitsuhiro Kato, Ayumi Matsumoto, 2021, Brain and Development.

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

N. Matsumoto, H. Osaka, H. Saitsu, 2016, Brain and Development.

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation

Y. Okazaki, H. Osaka, Y. Kishita, 2018, Brain and Development.

Japanese Leigh syndrome case treated with EPI-743

M. Klein, H. Osaka, K. Murayama, 2018, Brain and Development.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

R. Maroofian, H. Houlden, S. Miyatake, 2023, medRxiv.

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

N. Matsumoto, N. Miyake, R. Fukai, 2017, Brain and Development.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

M. Frith, K. Misawa, N. Matsumoto, 2023, Life Science Alliance.

Miglustat therapy in a case of early-infantile Niemann-Pick type C

E. Nanba, Shinji Itamura, H. Osaka, 2017, Brain and Development.

A case of anti-NMDAR encephalitis presented hypotensive shock during plasma exchange

H. Osaka, Y. Monden, T. Yamagata, 2016, Brain & development (Tokyo. 1979).