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Serial MRI findings of acute flaccid myelitis during an outbreak of enterovirus D68 infection in Japan

Brain & development (Tokyo. 1979), 2019-05, Vol.41 (5), p.443-451

2019

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Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies

Journal of human genetics, 2021-11, Vol.66 (11), p.1061-1068

2021

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Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0

Annals of neurology, 2019-11, Vol.86 (5), p.801-802

2019

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Mulberries in the urine: a tell-tale sign of Fabry disease

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.745-746

2018

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Disseminated cortical and subcortical lesions in neonatal enterovirus 71 encephalitis

Journal of neurovirology, 2020-10, Vol.26 (5), p.790-792

2020

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Clinical and electrophysiological features of acute flaccid myelitis: A national cohort study

Clinical neurophysiology, 2021-10, Vol.132 (10), p.2456-2463

2021

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High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome

International journal of molecular sciences, 2024-03, Vol.25 (5), p.2820

2024

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Persistent intracranial hyper-inflammation in ruptured cerebral aneurysm after COVID-19: case report and review of the literature

BMC neurology, 2024-01, Vol.24 (1), p.17-17, Article 17

2024

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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.776-782

2019

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Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

Pediatrics (Evanston), 2016-06, Vol.137 (6)

2016

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Subcortical axonal loss with glial reactions following partial status epilepticus with neuroradiological findings of reduced subcortical diffusion

Neurological sciences, 2019-04, Vol.40 (4), p.851-855

2019

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Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K

Brain & development (Tokyo. 1979), 2015-09, Vol.37 (8), p.822-824

2015

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Cytotoxic lesion of the corpus callosum exclusively at the genu in a case of callosal hypogenesis

Journal of neuroradiology, 2019-05, Vol.46 (3), p.222-223

2019

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West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother

Frontiers in pediatrics, 2019-12, Vol.7, p.531

2019

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Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?

Multiple sclerosis and related disorders, 2020-06, Vol.41, p.102040, Article 102040

2020

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Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease

Frontiers in pediatrics, 2021-09, Vol.9

2021

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Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

Human genome variation, 2016-08, Vol.3 (1), p.16025-16025, Article 16025

2016

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Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2427-n/a

2024

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Water Immersion-Induced Skin Wrinkling Test in Complex Regional Pain Syndrome

Pediatric neurology, 2015-06, Vol.52 (6), p.649-650

2015

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A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.171-174

2015

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Bilateral hydronephrosis due to obstructive ureteral stone associated with norovirus gastroenteritis

Clinical case reports, 2017-06, Vol.5 (6), p.936-938

2017

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Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation

Annals of neurology, 2016-03, Vol.79 (3), p.502-503

2016

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Description of Restrictively Defined Acute Flaccid Myelitis

JAMA pediatrics, 2019-07, Vol.173 (7), p.702

2019

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Effect of delayed palivizumab administration on respiratory syncytial virus infection-related hospitalisation: A retrospective, observational study

Medicine (Baltimore), 2021-11, Vol.100 (47), p.e27952

2021

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Serial MRI findings of acute flaccid myelitis during an outbreak of enterovirus D68 infection in Japan

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies

Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0

Mulberries in the urine: a tell-tale sign of Fabry disease

Disseminated cortical and subcortical lesions in neonatal enterovirus 71 encephalitis

Clinical and electrophysiological features of acute flaccid myelitis: A national cohort study

High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome

Persistent intracranial hyper-inflammation in ruptured cerebral aneurysm after COVID-19: case report and review of the literature

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

Subcortical axonal loss with glial reactions following partial status epilepticus with neuroradiological findings of reduced subcortical diffusion

Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K

Cytotoxic lesion of the corpus callosum exclusively at the genu in a case of callosal hypogenesis

West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother

Isolated cranial neuritis of the oculomotor nerve: Expanding the MOG phenotype?

Case Report: Acute Fulminant Cerebral Edema With Perivascular Abnormalities Related to Kawasaki Disease

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

Water Immersion-Induced Skin Wrinkling Test in Complex Regional Pain Syndrome

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Bilateral hydronephrosis due to obstructive ureteral stone associated with norovirus gastroenteritis

Clinical and genetic characteristics of patients with Doose syndrome

Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation

Description of Restrictively Defined Acute Flaccid Myelitis

Effect of delayed palivizumab administration on respiratory syncytial virus infection-related hospitalisation: A retrospective, observational study

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