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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models

Nature communications, 2019-08, Vol.10 (1), p.3604-12, Article 3604

2019

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Water intoxication: A clue to the presence of classical Fabry disease

Brain & development (Tokyo. 1979), 2022-09, Vol.44 (8), p.592-593

2022

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De novo KCNT1 mutations in early‐onset epileptic encephalopathy

Epilepsia (Copenhagen), 2015-09, Vol.56 (9), p.e121-e128

2015

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A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis

Brain & development (Tokyo. 1979), 2022-11, Vol.44 (10), p.748-752

2022

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Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Journal of human genetics, 2019-05, Vol.64 (5), p.499-504

2019

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Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature

The Tohoku Journal of Experimental Medicine, 2022, Vol.258(1), pp.49-54

2022

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Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2

The Tohoku Journal of Experimental Medicine, 2022, Vol.256(4), pp.321-326

2022

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Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients

The Pediatric infectious disease journal, 2021-05, Vol.40 (5), p.460

2021

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Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Brain & development (Tokyo. 1979), 2020-10, Vol.42 (9), p.696-699

2020

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Two cases of persistent falcine and occipital sinuses

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.170-173

2021

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The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy

The Tohoku Journal of Experimental Medicine, 2024, Vol.262(1), pp.29-31

2024

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Hidradenitis suppurativa in a long-lived patient with trisomy 13

JAAD Case Reports, 2020-06, Vol.6 (6), p.528-530

2020

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Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

Brain & development (Tokyo. 1979), 2020-02, Vol.42 (2), p.199-204

2020

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A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Journal of human genetics, 2018-06, Vol.63 (6), p.749-753

2018

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Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

Brain & development (Tokyo. 1979), 2018-09, Vol.40 (8), p.728-732

2018

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Genomic analysis identifies masqueraders of full‐term cerebral palsy

Annals of clinical and translational neurology, 2018-05, Vol.5 (5), p.538-551

2018

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Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan

Pediatric neurology, 2016, Vol.54, p.39-42.e1

2016

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A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

Journal of human genetics, 2019-02, Vol.64 (2), p.171-176

2019

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A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation

Brain & development (Tokyo. 1979), 2018-04, Vol.40 (4), p.334-338

2018

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A patient with Muenke syndrome manifesting migrating neonatal seizures

Brain & development (Tokyo. 1979), 2017-11, Vol.39 (10), p.873-876

2017

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Schinzel–Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Brain & development (Tokyo. 1979), 2012-02, Vol.34 (2), p.151-155

2012

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Reduction in Glutamine/Glutamate Levels in the Cerebral Cortex after Adrenocorticotropic Hormone Therapy in Patients with West Syndrome

The Tohoku Journal of Experimental Medicine, 2014, Vol.232(4), pp.277-283

2014

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A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy

Brain & development (Tokyo. 1979), 2014-01, Vol.36 (1), p.61-63

2014

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The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome

Brain & development (Tokyo. 1979), 2013-11, Vol.35 (10), p.887-893

2013

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Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly

Epilepsy research, 2010-12, Vol.92 (2), p.201-208

2010

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The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models

Water intoxication: A clue to the presence of classical Fabry disease

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2

Pneumococcal Serotype-specific Opsonophagocytic Activity in Interleukin-1 Receptor-associated Kinase 4-deficient Patients

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Two cases of persistent falcine and occipital sinuses

The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy

Hidradenitis suppurativa in a long-lived patient with trisomy 13

Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

Genomic analysis identifies masqueraders of full‐term cerebral palsy

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation

A patient with Muenke syndrome manifesting migrating neonatal seizures

Schinzel–Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Reduction in Glutamine/Glutamate Levels in the Cerebral Cortex after Adrenocorticotropic Hormone Therapy in Patients with West Syndrome

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy

The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome

Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly

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