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An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Neurogenetics, 2022-04, Vol.23 (2), p.129-135

2022

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Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study

Scientific reports, 2020-11, Vol.10 (1), p.20585-20585, Article 20585

2020

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A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome

Brain & development (Tokyo. 1979), 2022-08, Vol.44 (7), p.474-479

2022

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A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

Brain & development (Tokyo. 1979), 2022-02, Vol.44 (2), p.178-183

2022

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Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

Brain & development (Tokyo. 1979), 2021-03, Vol.43 (3), p.470-474

2021

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

PloS one, 2017-08, Vol.12 (8), p.e0181791-e0181791

2017

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Transient personality changes with bilateral thalamic infarction in a 12‐year‐old girl

Pediatrics international, 2022-01, Vol.64 (1), p.e15352-n/a

2022

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Unrecovered synkinesis as a sequela of facial nerve palsy in Kawasaki disease

Pediatrics international, 2022-01, Vol.64 (1), p.e14673-n/a

2022

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Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

Scientific reports, 2024-10, Vol.14 (1), p.24746-11, Article 24746

2024

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A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy

Nagoya journal of medical science, 2021-05, Vol.83 (2), p.361-365

2021

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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

Brain & development (Tokyo. 1979), 2018-09, Vol.40 (8), p.678-684

2018

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Two novel heterozygous variants in ATP1A3 cause movement disorders

Human genome variation, 2022-02, Vol.9 (1), p.7-7, Article 7

2022

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Functional recovery after the systemic administration of mesenchymal stem cells in a rat model of neonatal hypoxia-ischemia

Journal of neurosurgery. Pediatrics, 2018-11, Vol.22 (5), p.513-522

2018

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Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

Journal of human genetics, 2015-09, Vol.60 (9), p.509-513

2015

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Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

Developmental medicine and child neurology, 2012-07, Vol.54 (7), p.663-666

2012

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What Is the Role of Stathmin-2 in Axonal Biology and Degeneration?

Neurology, 2022-03, Vol.98 (9), p.384-384

2022

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A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

Brain & development (Tokyo. 1979), 2011-09, Vol.33 (8), p.697-699

2011

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Paroxysmal Tonic Upward Gaze Complicating Angelman Syndrome

Pediatric neurology, 2015, Vol.52 (1), p.125-127

2015

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A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

Child neurology open, 2016-01, Vol.3, p.2329048X16665758-2329048X16665758

2016

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Whole-genome analysis of human group A rotaviruses in 1980s Japan and evolutionary assessment of global Wa-like strains across half a century

Journal of general virology, 2024-06, Vol.105 (6)

2024

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Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome

Neurology, 2021-07, Vol.97 (2), p.92-94

2021

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Sequence analysis of a feline- and porcine-origin G3P[9] rotavirus A strain in a child with acute gastroenteritis in Japan

Archives of virology, 2023-02, Vol.168 (2), p.45-45, Article 45

2023

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Therapeutic efficacy of intravenous infusion of mesenchymal stem cells in rat perinatal brain injury

Pediatric research, 2023-12, Vol.94 (6), p.1921-1928

2023

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Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum

Journal of neurology, 2024-01, Vol.271 (1), p.419-430

2024

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Changing Patterns of Infectious Diseases Among Hospitalized Children in Hokkaido, Japan, in the Post-COVID-19 Era, July 2019 to June 2022

The Pediatric infectious disease journal, 2023-09, Vol.42 (9), p.766-773

2023

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An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Transient personality changes with bilateral thalamic infarction in a 12‐year‐old girl

Unrecovered synkinesis as a sequela of facial nerve palsy in Kawasaki disease

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing

A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

Two novel heterozygous variants in ATP1A3 cause movement disorders

Functional recovery after the systemic administration of mesenchymal stem cells in a rat model of neonatal hypoxia-ischemia

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

What Is the Role of Stathmin-2 in Axonal Biology and Degeneration?

A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

Paroxysmal Tonic Upward Gaze Complicating Angelman Syndrome

A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

Whole-genome analysis of human group A rotaviruses in 1980s Japan and evolutionary assessment of global Wa-like strains across half a century

Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome

Sequence analysis of a feline- and porcine-origin G3P[9] rotavirus A strain in a child with acute gastroenteritis in Japan

Therapeutic efficacy of intravenous infusion of mesenchymal stem cells in rat perinatal brain injury

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum

Changing Patterns of Infectious Diseases Among Hospitalized Children in Hokkaido, Japan, in the Post-COVID-19 Era, July 2019 to June 2022

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