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Two siblings with acute necrotizing encephalopathy associated with variants of LARS1

American journal of medical genetics. Part A, 2024-11, Vol.194 (11), p.e63803-n/a

2024

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Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene

Pediatrics international, 2019-10, Vol.61 (10), p.1055-1056

2019

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Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis

Clinical neurology and neurosurgery, 2020-09, Vol.196, p.106015-106015, Article 106015

2020

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Novel CLTC variants cause new brain and kidney phenotypes

Journal of human genetics, 2022-01, Vol.67 (1), p.1-7

2022

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Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Journal of the neurological sciences, 2023-04, Vol.447, p.120597-120597, Article 120597

2023

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Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

Frontiers in neurology, 2023-05, Vol.14, p.1085228-1085228

2023

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Expansion of the phenotype of Kosaki overgrowth syndrome

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2422-2427

2017

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Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

Pediatrics (Evanston), 2016-09, Vol.138 (3)

2016

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Expanding the phenotype of COL4A1-related disorders—Four novel variants

Brain & development (Tokyo. 1979), 2020-10, Vol.42 (9), p.639-645

2020

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WDR45 mutations in three male patients with West syndrome

Journal of human genetics, 2016-07, Vol.61 (7), p.653-661

2016

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A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

Clinical case reports, 2018-08, Vol.6 (8), p.1474-1477

2018

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Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children

Clinica chimica acta, 2017-02, Vol.465, p.5-10

2017

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Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1

Brain & development (Tokyo. 1979), 2018-02, Vol.40 (2), p.155-158

2018

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Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

JIMD Reports, Volume 43, 2019-01, Vol.43, p.7-12

2019

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A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

Brain & development (Tokyo. 1979), 2015-06, Vol.37 (6), p.638-642

2015

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Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Brain & development (Tokyo. 1979), 2012-01, Vol.34 (1), p.72-75

2012

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Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

Epilepsy & behavior reports, 2020-01, Vol.13, p.100349-100349, Article 100349

2020

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Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

Journal of human genetics, 2024-07, Vol.69 (7), p.349-355

2024

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The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant

Seizure (London, England), 2023-10, Vol.111, p.103-105

2023

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Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy

Brain & development (Tokyo. 1979), 2023-09, Vol.45 (8), p.462-466

2023

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Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATP ase 6 gene

Pediatrics international, 2019-10, Vol.61 (10), p.1055-1056

2019

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Elevation of brain gamma‐aminobutyric acid levels is associated with vigabatrin‐associated brain abnormalities on magnetic resonance imaging

Epilepsy research, 2022-03, Vol.181, p.106881-106881, Article 106881

2022

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A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.133-138

2014

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Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years

Neuropediatrics, 2020-08, Vol.51 (4), p.298-301

2020

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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Genetics in medicine, 2022-12, Vol.24 (12), p.2453-2463

2022

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Two siblings with acute necrotizing encephalopathy associated with variants of LARS1

Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene

Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis

Novel CLTC variants cause new brain and kidney phenotypes

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

Expansion of the phenotype of Kosaki overgrowth syndrome

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

Expanding the phenotype of COL4A1-related disorders—Four novel variants

WDR45 mutations in three male patients with West syndrome

A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children

Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1

Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Epilepsy in Christianson syndrome: Two cases of Lennox–Gastaut syndrome and a review of literature

Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant

Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy

Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATP ase 6 gene

Elevation of brain gamma‐aminobutyric acid levels is associated with vigabatrin‐associated brain abnormalities on magnetic resonance imaging

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome

Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

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