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Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

Scientific reports, 2020-05, Vol.10 (1), p.7511-7511, Article 7511

2020

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Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Brain (London, England : 1878), 2019-02, Vol.142 (2), p.322-333

2019

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Emerging trends in antipsychotic and antidepressant drug development: Targeting nonmonoamine receptors and innovative mechanisms

PCN reports, 2023-12, Vol.2 (4), p.e157-n/a

2023

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Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

Journal of human genetics, 2020-10, Vol.65 (10), p.921-925

2020

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Prognostic factors, psychomotor development and life of trisomy 13 patients

Pediatrics international, 2022-01, Vol.64 (1), p.e15369-n/a

2022

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A Simple, Fast, Sensitive LC-MS/MS Method to Quantify NAD(H) in Biological Samples: Plasma NAD(H) Measurement to Monitor Brain Pathophysiology

International journal of molecular sciences, 2024-02, Vol.25 (4), p.2325

2024

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Reply to the Letter, “Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation”

Brain & development (Tokyo. 1979), 2019-02, Vol.41 (2), p.224-224

2019

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Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts

Pharmaceutical research, 2020-03, Vol.37 (3), p.61-61, Article 61

2020

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A novel SLC9A1 mutation causes cerebellar ataxia

Journal of human genetics, 2018-10, Vol.63 (10), p.1049-1054

2018

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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Scientific reports, 2022-05, Vol.12 (1), p.6505-6505, Article 6505

2022

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Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub

Brain & development (Tokyo. 1979), 2018-05, Vol.40 (5), p.444-444

2018

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Nature genetics, 2008-06, Vol.40 (6), p.782-788

2008

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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Cell reports (Cambridge), 2018-01, Vol.22 (3), p.734-747

2018

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Survey on children with cerebral palsy in Tochigi Prefecture, Japan

Pediatrics international, 2021-08, Vol.63 (8), p.951-957

2021

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Beyond lecanemab: Examining Phase III potential in Alzheimer's therapeutics

PCN reports, 2024-03, Vol.3 (1), p.e185-n/a

2024

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Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

Scientific reports, 2024-02, Vol.14 (1), p.4820-4820, Article 4820

2024

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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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Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome

Scientific reports, 2024-05, Vol.14 (1), p.11561-11561, Article 11561

2024

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De novo KCNT1 mutations in early‐onset epileptic encephalopathy

Epilepsia (Copenhagen), 2015-09, Vol.56 (9), p.e121-e128

2015

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A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant

Human genome variation, 2024-08, Vol.11 (1), p.33-4

2024

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Wound healing responses of urinary extravasation after urethral injury

Scientific reports, 2023-06, Vol.13 (1), p.10628-10628, Article 10628

2023

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Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

Gene therapy, 2021-06, Vol.28 (6), p.329-338

2021

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Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

Journal of neurology, 2015-05, Vol.262 (5), p.1278-1284

2015

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Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

American journal of human genetics, 2011-11, Vol.89 (5), p.644-651

2011

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De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

Journal of human genetics, 2015-12, Vol.60 (12), p.739-742

2015

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Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Emerging trends in antipsychotic and antidepressant drug development: Targeting nonmonoamine receptors and innovative mechanisms

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

Prognostic factors, psychomotor development and life of trisomy 13 patients

A Simple, Fast, Sensitive LC-MS/MS Method to Quantify NAD(H) in Biological Samples: Plasma NAD(H) Measurement to Monitor Brain Pathophysiology

Reply to the Letter, “Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation”

Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts

A novel SLC9A1 mutation causes cerebellar ataxia

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Survey on children with cerebral palsy in Tochigi Prefecture, Japan

Beyond lecanemab: Examining Phase III potential in Alzheimer's therapeutics

Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors

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

Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant

Wound healing responses of urinary extravasation after urethral injury

Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

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