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Anti-NMDAR autoimmune encephalitis

Brain & development (Tokyo. 1979), 2014-09, Vol.36 (8), p.645-652

2014

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Learning difficulties in Japanese schoolchildren with focal epilepsy

Brain & development (Tokyo. 1979), 2020-10, Vol.42 (9), p.655-662

2020

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Serine racemase is predominantly localized in neurons in mouse brain

Journal of comparative neurology (1911), 2008-10, Vol.510 (6), p.641-654

2008

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Maternal fermented food intake and infant neurodevelopment: The Japan Environment and Children's Study

Asia Pacific Journal of Clinical Nutrition, 2024-03, Vol.33 (1), p.66-82

2024

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Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

Brain & development (Tokyo. 1979), 2018-01, Vol.40 (1), p.53-57

2018

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Clinical and Electrophysiological Effects of D-Serine in a Schizophrenia Patient Positive for Anti- N -Methyl-D-Aspartate Receptor Antibodies

Biological psychiatry (1969), 2015-03, Vol.77 (6), p.e27-e29

2015

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Human bocavirus in patients with encephalitis, Sri Lanka, 2009-2010

Emerging infectious diseases, 2013-11, Vol.19 (11), p.1859-1862

2013

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Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

International journal of hematology, 2012-06, Vol.95 (6), p.692-696

2012

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PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

Neurology, 2014-05, Vol.82 (18), p.1587-1596

2014

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Maternal fermented food intake and infant neurodevelopment: The Japan Environment and Children's Study

Asia Pacific journal of clinical nutrition, 2024-03, Vol.33 (1), p.66-82

2024

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MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene

Clinical nephrology, 2017-09, Vol.88 (9), p.162-166

2017

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Toddler Neurodevelopmental Outcomes Are Associated With School-Age IQ in Children With Single Ventricle Physiology

Seminars in thoracic and cardiovascular surgery, 2020-01, Vol.32 (2), p.302-310

2020

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Deciphering the premature mortality in PIGA-CDG – An untold story

Epilepsy research, 2021-02, Vol.170, p.106530-106530, Article 106530

2021

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PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

Seizure (London, England), 2019-10, Vol.71, p.1-5

2019

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Difficulty of crossmodal processing in individuals with autism spectrum disorders: An audio-visual gap/overlap paradigm study

Research in autism spectrum disorders, 2014-04, Vol.8 (4), p.424-431

2014

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OR-E14 MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene (2nd report)

Japanese Journal of Pediatric Nephrology, 2017-05, Vol.30 (suppl), p.221-221

2017

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Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

Neuromuscular disorders : NMD, 2014-07, Vol.24 (7), p.642-647

2014

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A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

Gene, 2012-09, Vol.506 (1), p.146-149

2012

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An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1771-1777

2012

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An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region

International journal of clinical and experimental pathology, 2014-01, Vol.7 (6), p.3355-3362

2014

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Maternal fermented food intake and infant neurodevelopment: The Japan Environment and Children's Study

Asia Pacific Journal of Clinical Nutrition, 2013-03, p.1-24

2013

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P1I-68 Serine racemase localizes in neurons and regulates excitotoxicity in the brain

Journal of Pharmacological Sciences, 2008, Vol.106 (suppl.2), p.140-140

2008

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IgA nephropathy associated with X-linked thrombocytopenia

American journal of kidney diseases, 2004-03, Vol.43 (3), p.e11.1-e11.6

2004

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Clinical and electrophysiological effects of D-serine in a schizophrenia patient positive for anti-N-methyl-D-aspartate receptor antibodies

Biological psychiatry, 2015, Vol.77 (6), p.e27-e29

2015

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An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

American Journal of Medical Genetics Part A, 2012, Vol.158A (7), p.1771-1777

2012

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Anti-NMDAR autoimmune encephalitis

Learning difficulties in Japanese schoolchildren with focal epilepsy

Serine racemase is predominantly localized in neurons in mouse brain

Maternal fermented food intake and infant neurodevelopment: The Japan Environment and Children's Study

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

Clinical and Electrophysiological Effects of D-Serine in a Schizophrenia Patient Positive for Anti- N -Methyl-D-Aspartate Receptor Antibodies

Human bocavirus in patients with encephalitis, Sri Lanka, 2009-2010

Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

Maternal fermented food intake and infant neurodevelopment: The Japan Environment and Children's Study

MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene

Toddler Neurodevelopmental Outcomes Are Associated With School-Age IQ in Children With Single Ventricle Physiology

Deciphering the premature mortality in PIGA-CDG – An untold story

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

Difficulty of crossmodal processing in individuals with autism spectrum disorders: An audio-visual gap/overlap paradigm study

OR-E14 MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene (2nd report)

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region

Maternal fermented food intake and infant neurodevelopment: The Japan Environment and Children's Study

P1I-68 Serine racemase localizes in neurons and regulates excitotoxicity in the brain

IgA nephropathy associated with X-linked thrombocytopenia

Clinical and electrophysiological effects of D-serine in a schizophrenia patient positive for anti-N-methyl-D-aspartate receptor antibodies

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

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