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Guidelines for the diagnosis and treatment of acute encephalopathy in childhood

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.2-31

2021

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Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

Brain & development (Tokyo. 1979), 2012-05, Vol.34 (5), p.337-343

2012

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

Brain (London, England : 1878), 2019-02, Vol.142 (2), p.322-333

2019

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Greater reliance on proprioceptive information during a reaching task with perspective manipulation among children with autism spectrum disorders

Scientific reports, 2021-08, Vol.11 (1), p.15974-15974, Article 15974

2021

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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Journal of autism and developmental disorders, 2021-12, Vol.51 (12), p.4655-4662

2021

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Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex

Scientific reports, 2019-04, Vol.9 (1), p.5874, Article 5874

2019

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Activation of Supraoptic Oxytocin Neurons by Secretin Facilitates Social Recognition

Biological psychiatry (1969), 2017-02, Vol.81 (3), p.243-251

2017

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

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Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014–2017

Brain & development (Tokyo. 1979), 2020-08, Vol.42 (7), p.508-514

2020

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Multifocal and extrapulmonary tuberculosis due to immunosuppressants

Pediatrics international, 2021-09, Vol.63 (9), p.1117-1119

2021

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1282-1287

2013

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Solitary rectal ulcer syndrome: A Misleading term

Pediatrics international, 2021-06, Vol.63 (6), p.739-740

2021

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Forced normalization of Lennox-Gastaut syndrome using lacosamide: A case report

Brain & development (Tokyo. 1979), 2021-10, Vol.43 (9), p.963-966

2021

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Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

Scientific reports, 2024-02, Vol.14 (1), p.4820-4820, Article 4820

2024

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Developmental changes of the neural mechanisms underlying level 2 visual perspective‐taking: A functional near‐infrared spectroscopy study

Developmental psychobiology, 2022-01, Vol.64 (1), p.e22229-n/a

2022

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

American journal of human genetics, 2020-04, Vol.106 (4), p.549-558

2020

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Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome

Scientific reports, 2024-05, Vol.14 (1), p.11561-11561, Article 11561

2024

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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.277-277, Article 277

2019

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Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

Gene therapy, 2021-06, Vol.28 (6), p.329-338

2021

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Two cases of DYNC1H1 mutations with intractable epilepsy

Brain & development (Tokyo. 1979), 2021-09, Vol.43 (8), p.857-862

2021

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Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause

Brain & development (Tokyo. 1979), 2022-08, Vol.44 (7), p.486-491

2022

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Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

Human genome variation, 2021-08, Vol.8 (1), p.34-34, Article 34

2021

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Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients

Brain & development (Tokyo. 1979), 2016-01, Vol.38 (1), p.91-99

2016

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Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant

Scientific reports, 2024-01, Vol.14 (1), p.440-440, Article 440

2024

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Comparative Transcriptome Landscape of Mouse and Human Hearts

Frontiers in cell and developmental biology, 2020-04, Vol.8, p.268-268

2020

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Guidelines for the diagnosis and treatment of acute encephalopathy in childhood

Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

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

Greater reliance on proprioceptive information during a reaching task with perspective manipulation among children with autism spectrum disorders

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex

Activation of Supraoptic Oxytocin Neurons by Secretin Facilitates Social Recognition

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014–2017

Multifocal and extrapulmonary tuberculosis due to immunosuppressants

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Solitary rectal ulcer syndrome: A Misleading term

Forced normalization of Lennox-Gastaut syndrome using lacosamide: A case report

Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

Developmental changes of the neural mechanisms underlying level 2 visual perspective‐taking: A functional near‐infrared spectroscopy study

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

Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

Two cases of DYNC1H1 mutations with intractable epilepsy

Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

Circadian-relevant genes are highly polymorphic in autism spectrum disorder patients

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant

Comparative Transcriptome Landscape of Mouse and Human Hearts

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