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The first Japanese case of primary familial brain calcification caused by an MYORG variant

Journal of human genetics, 2020-10, Vol.65 (10), p.917-920

2020

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Regulation of retinal cell fate specification by multiple transcription factors

Brain research, 2008-02, Vol.1192, p.90-98

2008

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Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Journal of human genetics, 2020-04, Vol.65 (4), p.363-369

2020

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Analysis of genetic risk factors in Japanese patients with Parkinson's disease

Journal of human genetics, 2021-10, Vol.66 (10), p.957-964

2021

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Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection

PloS one, 2023-06, Vol.18 (6), p.e0287545-e0287545

2023

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Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

Neurobiology of disease, 2021-01, Vol.148, p.105215-105215, Article 105215

2021

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A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

Molecular brain, 2015-12, Vol.8 (89), p.89-89, Article 89

2015

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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

BMC medical genetics, 2020-03, Vol.21 (1), p.68-4, Article 68

2020

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Aggressive periodontitis and NOD2 variants

Journal of human genetics, 2020-10, Vol.65 (10), p.841-846

2020

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Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis

Geriatrics & gerontology international, 2018-10, Vol.18 (10), p.1519-1520

2018

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The Commercial Antibodies Widely Used to Measure H3 K56 Acetylation Are Non-Specific in Human and Drosophila Cells

PloS one, 2016-05, Vol.11 (5), p.e0155409-e0155409

2016

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Sustained Notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis

Genes & development, 2006-10, Vol.20 (19), p.2739-2753

2006

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Hes1 and Hes5 Control the Progenitor Pool, Intermediate Lobe Specification, and Posterior Lobe Formation in the Pituitary Development

Molecular endocrinology (Baltimore, Md.), 2007-06, Vol.21 (6), p.1458-1466

2007

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At the intersection of non-coding transcription, DNA repair, chromatin structure, and cellular senescence

Frontiers in genetics, 2013, Vol.4, p.136-136

2013

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Roles of bHLH genes in neural stem cell differentiation

Experimental cell research, 2005-06, Vol.306 (2), p.343-348

2005

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Epigenetic inheritance of an inducibly nucleosome-depleted promoter and its associated transcriptional state in the apparent absence of transcriptional activators

Epigenetics & chromatin, 2009-09, Vol.2 (1), p.11-11, Article 11

2009

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C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Journal of the neurological sciences, 2019-07, Vol.402, p.118-120

2019

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Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Neurology, 2014-11, Vol.83 (22), p.2054

2014

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Optineurin regulates osteoblastogenesis through STAT1

Biochemical and biophysical research communications, 2020-05, Vol.525 (4), p.889-894

2020

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Regulation of retinal cell fate specification by multiple transcription factors: Retinal development

Brain research, 2008, Vol.1192, p.90-98

2008

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Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

Neurology. Genetics, 2020-02, Vol.6 (1), p.e396-e396

2020

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Mash1 and Math3 Are Required for Development of Branchiomotor Neurons and Maintenance of Neural Progenitors

The Journal of neuroscience, 2005-06, Vol.25 (25), p.5857-5865

2005

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Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis

Geriatrics & gerontology international, 2018, Vol.18 (10), p.1519-1520

2018

Volltextzugriff (PDF)

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Journal of the neurological sciences, 2019, Vol.402, p.118-120

2019

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Distribution of Lymph Node Metastasis in Esophageal Squamous Cell Carcinoma After Trimodal Therapy

Annals of surgical oncology, 2021-03, Vol.28 (3), p.1798-1807

2021

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The first Japanese case of primary familial brain calcification caused by an MYORG variant

Regulation of retinal cell fate specification by multiple transcription factors

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Analysis of genetic risk factors in Japanese patients with Parkinson's disease

Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection

Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Aggressive periodontitis and NOD2 variants

Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis

The Commercial Antibodies Widely Used to Measure H3 K56 Acetylation Are Non-Specific in Human and Drosophila Cells

Sustained Notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis

Hes1 and Hes5 Control the Progenitor Pool, Intermediate Lobe Specification, and Posterior Lobe Formation in the Pituitary Development

At the intersection of non-coding transcription, DNA repair, chromatin structure, and cellular senescence

Roles of bHLH genes in neural stem cell differentiation

Epigenetic inheritance of an inducibly nucleosome-depleted promoter and its associated transcriptional state in the apparent absence of transcriptional activators

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Optineurin regulates osteoblastogenesis through STAT1

Regulation of retinal cell fate specification by multiple transcription factors: Retinal development

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

Mash1 and Math3 Are Required for Development of Branchiomotor Neurons and Maintenance of Neural Progenitors

Compound heterozygote mutations in the SIGMAR1 gene in an oldest-old patient with amyotrophic lateral sclerosis

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Distribution of Lymph Node Metastasis in Esophageal Squamous Cell Carcinoma After Trimodal Therapy

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