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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

The Journal of pediatrics, 2016-04, Vol.171, p.171-177.e4

2016

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Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

Brain & development (Tokyo. 1979), 2021-05, Vol.43 (5), p.652-656

2021

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Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome

Brain & development (Tokyo. 1979), 2018-11, Vol.40 (10), p.934-938

2018

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Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord

Brain & development (Tokyo. 1979), 2016-10, Vol.38 (9), p.819-826

2016

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Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

Brain & development (Tokyo. 1979), 2016-09, Vol.38 (8), p.763-767

2016

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Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus

Brain & development (Tokyo. 1979), 2016-09, Vol.38 (8), p.772-776

2016

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Efficacy of long term weekly ACTH therapy for intractable epilepsy

Brain & development (Tokyo. 1979), 2015-04, Vol.37 (4), p.449-454

2015

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Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake

Brain & development (Tokyo. 1979), 2014-02, Vol.36 (2), p.143-147

2014

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Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

Brain & development (Tokyo. 1979), 2017-04, Vol.39 (4), p.337-340

2017

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A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Brain & development (Tokyo. 1979), 2016-02, Vol.38 (2), p.257-260

2016

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Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

Brain & development (Tokyo. 1979), 2015-03, Vol.37 (3), p.362-365

2015

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RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

Brain & development (Tokyo. 1979), 2014-06, Vol.36 (6), p.532-536

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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A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor

Pediatric neurology, 2023-09, Vol.146, p.16-20

2023

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Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation

Brain & development (Tokyo. 1979), 2022-02, Vol.44 (2), p.148-152

2022

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A patient with early-onset SMAX3 and a novel variant of ATP7A

Brain & development (Tokyo. 1979), 2022-01, Vol.44 (1), p.63-67

2022

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Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene ( NR2F1 ) mutation

Seizure (London, England), 2017-08, Vol.50, p.144-146

2017

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Hypoperfusion in caudate nuclei in patients with brain–lung–thyroid syndrome

Journal of the neurological sciences, 2012-04, Vol.315 (1), p.77-81

2012

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Functional connectivity changes between frontopolar cortex and nucleus accumbens following cognitive behavioral therapy in major depression: A randomized clinical trial

Psychiatry research. Neuroimaging, 2023-07, Vol.332, p.111643-111643, Article 111643

2023

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Cognitive behavioral therapy effects on frontopolar cortex function during future thinking in major depressive disorder: A randomized clinical trial

Journal of affective disorders, 2022-02, Vol.298 (Pt A), p.644-655

2022

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Clinical features related to rapid cycling and one-year euthymia in bipolar disorder patients: A multicenter treatment survey for bipolar disorder in psychiatric clinics (MUSUBI)

Journal of psychiatric research, 2020-12, Vol.131, p.228-234

2020

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Balance between angiogenic and anti-angiogenic isoforms of VEGF-A is associated with the complexity and severity of coronary artery disease

Clinica chimica acta, 2018-03, Vol.478, p.114-119

2018

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Urinary and circulating levels of the anti-angiogenic isoform of vascular endothelial growth factor-A in patients with chronic kidney disease

Clinica chimica acta, 2017-12, Vol.475, p.102-108

2017

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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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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome

Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus

Efficacy of long term weekly ACTH therapy for intractable epilepsy

Effect of a blackout in pediatric patients with home medical devices during the 2011 eastern Japan earthquake

Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation

A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

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

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor

Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation

A patient with early-onset SMAX3 and a novel variant of ATP7A

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene ( NR2F1 ) mutation

Hypoperfusion in caudate nuclei in patients with brain–lung–thyroid syndrome

Functional connectivity changes between frontopolar cortex and nucleus accumbens following cognitive behavioral therapy in major depression: A randomized clinical trial

Cognitive behavioral therapy effects on frontopolar cortex function during future thinking in major depressive disorder: A randomized clinical trial

Clinical features related to rapid cycling and one-year euthymia in bipolar disorder patients: A multicenter treatment survey for bipolar disorder in psychiatric clinics (MUSUBI)

Balance between angiogenic and anti-angiogenic isoforms of VEGF-A is associated with the complexity and severity of coronary artery disease

Urinary and circulating levels of the anti-angiogenic isoform of vascular endothelial growth factor-A in patients with chronic kidney disease

A case of chronic recurrent cerebellar ataxia responding to steroid therapy

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