S. Akamine

发表

GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons

Takahiro A. Kato, S. Kanba, Y. Nakabeppu, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Early‐onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Takahiro A. Kato, C. Shaw, A. Hiwatashi, 2017, Epilepsia open.

Decision-making dilemmas of paediatricians: a qualitative study in Japan

H. Takada, T. Hara, M. Sanefuji, 2019, BMJ Open.

Influenza-associated encephalopathy with focal late reduced diffusion circumscribing a pre-existing cortical lesion.

R. Kira, Sooyoung Lee, S. Akamine, 2020, Journal of neuroradiology = Journal de neuroradiologie.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Naomichi Matsumoto, Nobuhiko Okamoto, Yukifumi Monden, 2015, European Journal of Human Genetics.

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

H. Koga, T. Hara, N. Matsumoto, 2018, European Journal of Medical Genetics.

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention

H. Takada, M. Sanefuji, Y. Sakai, 2018, Scientific Reports.

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome

N. Matsumoto, M. Sanefuji, N. Miyake, 2019, Brain and Development.

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy

T. Hara, M. Sanefuji, Y. Sakai, 2016, Clinical EEG and neuroscience.

Sequential radiologic findings in osteopathia striata with cranial sclerosis.

R. Kira, Y. Tomita, S. Akamine, 2019, Diagnostic and interventional imaging.

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

T. Hara, N. Matsumoto, M. Sanefuji, 2016, BMC Neurology.

Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?

R. Kira, S. Akamine, Toshiyuki Takahashi, 2020, Multiple sclerosis and related disorders.

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases

Y. Maehara, M. Sanefuji, Y. Sakai, 2018, Clinical EEG and neuroscience.

Erratum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice (Scientific Reports (2016) 6 (22991) DOI: 10.1038/srep22991)

H. Shigeto, H. Takada, T. Hara, 2016 .

Sustained endocrine profiles of a girl with WAGR syndrome

C. Shaw, T. Hara, M. Sanefuji, 2017, BMC Medical Genetics.

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.

C. Shaw, Janghoo Lim, Min-Seon Kim, 2013, European journal of medical genetics.

De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy

C. Shaw, T. Hara, N. Matsumoto, 2016, Annals of human genetics.

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention

H. Takada, M. Sanefuji, Y. Sakai, 2018, Scientific Reports.

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

Masafumi Sanefuji, Hiroyuki Torisu, Yoshito Ishizaki, 2015, Scientific Reports.

Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate

Y. Mizuno, R. Kira, Michiko Torio, 2022, Brain and Development.

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

H. Shigeto, H. Takada, T. Hara, 2016, Scientific Reports.

Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family

K. Ihara, T. Hara, S. Akamine, 2015, CEN Case Reports.

Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0

Kayoko Saito, R. Kira, S. Akamine, 2019, Annals of neurology.

Shank3a/b isoforms regulate the susceptibility to seizures and thalamocortical development in the early postnatal period of mice

Y. Nakabeppu, D. Kang, M. Sanefuji, 2023, Neuroscience Research.

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion

H. Takada, Yoshihiko Maehara, M. Sanefuji, 2017, Brain and Development.

Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome

K. Iijima, R. Kira, S. Akamine, 2021, Seizure.

Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

H. Shigeto, H. Takada, T. Hara, 2016, Scientific Reports.