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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Cell reports (Cambridge), 2018-01, Vol.22 (3), p.734-747

2018

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Nature communications, 2019-06, Vol.10 (1), p.2506-14, Article 2506

2019

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Effect of total callosotomy on KCNQ2-related intractable epilepsy

Brain & development (Tokyo. 1979), 2020-09, Vol.42 (8), p.612-616

2020

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MRI findings in pediatric neuromyelitis optica spectrum disorder with MOG antibody: Four cases and review of the literature

Brain & development (Tokyo. 1979), 2019-04, Vol.41 (4), p.367-372

2019

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Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2021-03, Vol.43 (3), p.440-447

2021

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Case report: Evolution of catatonic mutism and psychotic symptoms in an adolescent with Down syndrome: transition from Down syndrome disintegrative disorder to anti-N-methyl-D-aspartate receptor encephalitis

Frontiers in neurology, 2023-06, Vol.14, p.1200541

2023

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Cutting Edge: Role of Toll-Like Receptor 9 in CpG DNA-Induced Activation of Human Cells

The Journal of immunology (1950), 2001-10, Vol.167 (7), p.3555-3558

2001

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Clinicopathological features of acute autonomic and sensory neuropathy

Brain (London, England : 1878), 2010-10, Vol.133 (10), p.2881-2896

2010

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Febrile infection-related epilepsy syndrome and splenial lesions: a case report and review of the literature

Epilepsy & Seizure, 2023, Vol.15(1), pp.42-58

2023

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Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy

Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.601-604

2016

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Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C

Pediatrics international, 2016-11, Vol.58 (11), p.1252-1254

2016

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Acute encephalopathy of Bacillus cereus mimicking Reye syndrome

Brain & development (Tokyo. 1979), 2010-09, Vol.32 (8), p.688-690

2010

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Fulminant form of acute disseminated encephalomyelitis in a child treated with mild hypothermia

Pediatrics international, 2013-12, Vol.55 (6), p.e149-e151

2013

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Cyclosporine for acute encephalopathy with biphasic seizures and late reduced diffusion

Pediatrics international, 2014-08, Vol.56 (4), p.577-582

2014

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Salmonella encephalopathy successfully treated with high-dose methylpredonisolone therapy

Brain & development (Tokyo. 1979), 2009-11, Vol.31 (10), p.782-784

2009

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A case of chronic recurrent cerebellar ataxia responding to steroid therapy

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.83-85

2009

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Effect of Suppressive DNA on CpG-Induced Immune Activation

The Journal of immunology (1950), 2002-11, Vol.169 (10), p.5590-5594

2002

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Toxic epidermal necrolysis in a 4-year-old boy successfully treated with plasma exchange in combination with methylprednisolone and i.v. immunoglobulin

Journal of dermatology, 2012-11, Vol.39 (11), p.951-952

2012

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Rasmussen Syndrome Combined With IgA Deficiency and Membranous Nephropathy

Pediatric neurology, 2009-06, Vol.40 (6), p.468-470

2009

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Molecular diagnosis of 405 individuals with autism spectrum disorder

European journal of human genetics : EJHG, 2023-03

2023

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Novel mutations in SH 3 TC 2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Pediatrics international, 2016-11, Vol.58 (11), p.1252-1254

2016

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Functional recovery in hemiplegic cerebral palsy: ipsilateral electromyographic responses to focal transcranial magnetic stimulation

Brain & development (Tokyo. 1979), 1999-04, Vol.21 (3), p.162-165

1999

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Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Pediatric neurology, 2020-12, Vol.113, p.33-41

2020

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Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results)

Clinical and experimental rheumatology, 2013-03, Vol.31 (2), p.302

2013

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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Effect of total callosotomy on KCNQ2-related intractable epilepsy

MRI findings in pediatric neuromyelitis optica spectrum disorder with MOG antibody: Four cases and review of the literature

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy

Case report: Evolution of catatonic mutism and psychotic symptoms in an adolescent with Down syndrome: transition from Down syndrome disintegrative disorder to anti-N-methyl-D-aspartate receptor encephalitis

Cutting Edge: Role of Toll-Like Receptor 9 in CpG DNA-Induced Activation of Human Cells

Clinicopathological features of acute autonomic and sensory neuropathy

Febrile infection-related epilepsy syndrome and splenial lesions: a case report and review of the literature

Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C

Acute encephalopathy of Bacillus cereus mimicking Reye syndrome

Fulminant form of acute disseminated encephalomyelitis in a child treated with mild hypothermia

Cyclosporine for acute encephalopathy with biphasic seizures and late reduced diffusion

Salmonella encephalopathy successfully treated with high-dose methylpredonisolone therapy

A case of chronic recurrent cerebellar ataxia responding to steroid therapy

Effect of Suppressive DNA on CpG-Induced Immune Activation

Toxic epidermal necrolysis in a 4-year-old boy successfully treated with plasma exchange in combination with methylprednisolone and i.v. immunoglobulin

Rasmussen Syndrome Combined With IgA Deficiency and Membranous Nephropathy

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Molecular diagnosis of 405 individuals with autism spectrum disorder

Novel mutations in SH 3 TC 2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Functional recovery in hemiplegic cerebral palsy: ipsilateral electromyographic responses to focal transcranial magnetic stimulation

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results)

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