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Investigating DNA Methylation of SHATI/NAT8L Promoter Sites in Blood of Unmedicated Patients with Major Depressive Disorder

Biological and Pharmaceutical Bulletin, 2020/07/01, Vol.43(7), pp.1067-1072

2020

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Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

BMC medical genomics, 2023-03, Vol.16 (1), p.43-43, Article 43

2023

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Linear cortical cystic lesions: Characteristic MR findings in MELAS patients

Brain & development (Tokyo. 1979), 2021-10, Vol.43 (9), p.931-938

2021

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Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan

Brain & development (Tokyo. 1979), 2016-10, Vol.38 (9), p.785-791

2016

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Reversible infantile respiratory chain deficiency: A clinical and molecular study

Annals of neurology, 2010-12, Vol.68 (6), p.845-854

2010

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Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

Journal of human genetics, 2014-07, Vol.59 (7), p.405-407

2014

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Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

Journal of human genetics, 2008-07, Vol.53 (7), p.598-606

2008

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GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.393-398

2014

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Granular Swollen Epithelial Cells: A Histologic and Diagnostic Marker for Mitochondrial Nephropathy

The American journal of surgical pathology, 2010-02, Vol.34 (2), p.262-270

2010

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Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly

Brain research, 2012-08, Vol.1470, p.89-97

2012

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Methyl CpG-Binding Protein 2 (a Mutation of Which Causes Rett Syndrome) Directly Regulates Insulin-Like Growth Factor Binding Protein 3 in Mouse and Human Brains

Journal of neuropathology and experimental neurology, 2007-02, Vol.66 (2), p.117-123

2007

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Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy

Brain & development (Tokyo. 1979), 2012-10, Vol.34 (9), p.776-779

2012

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Aromatic l‐amino acid decarboxylase deficiency associated with epilepsy mimicking non‐epileptic involuntary movements

Developmental medicine and child neurology, 2008-11, Vol.50 (11), p.876-878

2008

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Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Journal of neurology, 2012-11, Vol.259 (11), p.2329-2334

2012

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Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy

Brain (London, England : 1878), 2019-03, Vol.142 (3), p.560-573

2019

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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Journal of human genetics, 2004-02, Vol.49 (2), p.92-96

2004

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Unusual exocrine complication of pancreatitis in mitochondrial disease

Brain & development (Tokyo. 1979), 2013-08, Vol.35 (7), p.654-659

2013

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Profiles of blood biomarkers in alternating hemiplegia of childhood – Increased MMP-9 and decreased substance P indicates its pathophysiology

Brain & development (Tokyo. 1979), 2012-03, Vol.34 (3), p.196-200

2012

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Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)

Acta neuropathologica communications, 2015-08, Vol.3, p.52-52

2015

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Expression of Astrocyte-Related Receptors in Cortical Dysplasia With Intractable Epilepsy

Journal of neuropathology and experimental neurology, 2014-08, Vol.73 (8), p.798-806

2014

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Abnormal maturation of non-dysmorphic neurons in focal cortical dysplasia: Immunohistochemical considerations

Seizure (London, England), 2010-06, Vol.19 (5), p.274-279

2010

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Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia

Journal of human genetics, 2006-06, Vol.51 (6), p.555-558

2006

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Methylation status of the p15 and p16 genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia

British journal of haematology, 2005-03, Vol.128 (6), p.805-812

2005

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Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

Psychiatric genetics, 2011-08, Vol.21 (4), p.208-211

2011

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Investigating DNA Methylation of SHATI/NAT8L Promoter Sites in Blood of Unmedicated Patients with Major Depressive Disorder

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

Linear cortical cystic lesions: Characteristic MR findings in MELAS patients

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan

Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations

Reversible infantile respiratory chain deficiency: A clinical and molecular study

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease

Granular Swollen Epithelial Cells: A Histologic and Diagnostic Marker for Mitochondrial Nephropathy

Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: Unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly

Methyl CpG-Binding Protein 2 (a Mutation of Which Causes Rett Syndrome) Directly Regulates Insulin-Like Growth Factor Binding Protein 3 in Mouse and Human Brains

Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy

Aromatic l‐amino acid decarboxylase deficiency associated with epilepsy mimicking non‐epileptic involuntary movements

Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

Unusual exocrine complication of pancreatitis in mitochondrial disease

Profiles of blood biomarkers in alternating hemiplegia of childhood – Increased MMP-9 and decreased substance P indicates its pathophysiology

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)

Expression of Astrocyte-Related Receptors in Cortical Dysplasia With Intractable Epilepsy

Abnormal maturation of non-dysmorphic neurons in focal cortical dysplasia: Immunohistochemical considerations

Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia

Methylation status of the p15 and p16 genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

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