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Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms

PloS one, 2022-03, Vol.17 (3), p.e0265359-e0265359

2022

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RNF213 Gene Variants in Moyamoya Disease: Questions Remain Unanswered

World neurosurgery, 2022-06, Vol.162, p.18-20

2022

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Dystonic Tremor in Adult-onset DYT-KMT2B

Internal Medicine, 2022/08/01, Vol.61(15), pp.2357-2360

2022

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Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease

Neurologia medico-chirurgica, 2024/01/15, Vol.64(1), pp.43-49

2024

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Letter to the Editor. Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease

Journal of neurosurgery, 2018-08, Vol.129 (2), p.563-565

2018

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A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2

Endocrine Journal, 2023, Vol.70(6), pp.629-634

2023

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Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.812-816

2019

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Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease

Scientific reports, 2022-10, Vol.12 (1), p.18056-18056, Article 18056

2022

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Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Scientific reports, 2024-10, Vol.14 (1), p.22720-13, Article 22720

2024

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Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Human genome variation, 2021-04, Vol.8 (1), p.14-14, Article 14

2021

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Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients

Journal of neurosurgery. Pediatrics, 2022-01, Vol.29 (1), p.48-56

2022

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Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy

Frontiers in neurology, 2021-12, Vol.12, p.789468

2021

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Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease

Journal of the American Heart Association, 2015-05, Vol.4 (5), p.n/a

2015

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Cryobiopsy with endobronchial ultrasonography using a guide sheath for peripheral pulmonary lesions and DNA analysis by next generation sequencing and rapid on-site evaluation

Respiratory investigation, 2019-03, Vol.57 (2), p.150-156

2019

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Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis

Journal of the American Heart Association, 2024-05, Vol.13 (9), p.e032872-e032872

2024

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Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

Clinical and experimental nephrology, 2019-08, Vol.23 (8), p.1022-1030

2019

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Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension

PloS one, 2019-01, Vol.14 (1), p.e0211450-e0211450

2019

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Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?

Journal of stroke and cerebrovascular diseases, 2020-02, Vol.29 (2), p.104532, Article 104532

2020

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Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

Human genome variation, 2023-03, Vol.10 (1), p.8-8, Article 8

2023

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Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases

Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2047-2051

2020

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Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease

Stroke: vascular and interventional neurology, 2022-09, Vol.2 (5)

2022

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A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation

Neurology and clinical neuroscience, 2022-09, Vol.10 (5), p.255-258

2022

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Identification of shared genomic aberrations between angiomatous and microcystic meningiomas

Neuro-oncology advances, 2019-05, Vol.1 (1), p.vdz028-vdz028

2019

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Network-based gene expression analysis of vascular wall of juvenile Moyamoya disease

Child's nervous system, 2015-03, Vol.31 (3), p.399-404

2015

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Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

Journal of stroke and cerebrovascular diseases, 2017-01, Vol.26 (1), p.150-161

2017

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Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms

RNF213 Gene Variants in Moyamoya Disease: Questions Remain Unanswered

Dystonic Tremor in Adult-onset DYT-KMT2B

Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease

Letter to the Editor. Influence of rare RNF213 variants other than p.R4810K on the clinical outcomes of moyamoya disease

A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2

Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation

Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients

Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease

Cryobiopsy with endobronchial ultrasonography using a guide sheath for peripheral pulmonary lesions and DNA analysis by next generation sequencing and rapid on-site evaluation

Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension

Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases

Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease

A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation

Identification of shared genomic aberrations between angiomatous and microcystic meningiomas

Network-based gene expression analysis of vascular wall of juvenile Moyamoya disease

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

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