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Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

Cell metabolism, 2012-01, Vol.15 (1), p.100-109

2012

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Natural course of melas in Japanese cohort study

Journal of the neurological sciences, 2009, Vol.283 (1), p.248-248

2009

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P.72 - GDF-15 expression in mitochondrial and other neurological diseases

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S119-S120

2017

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GDF-15 expression in mitochondrial and other neurological diseases

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S119-S120

2017

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P.53Potentially confounding variables of mitochondria biomarker GDF-15

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S56-S56

2019

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A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

HGG advances, 2023-01, Vol.4 (1), p.100148-100148, Article 100148

2023

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GDF-15 expression in multiple sclerosis and limbic encephalitis

Journal of the neurological sciences, 2017-10, Vol.381, p.466-467

2017

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Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice

Human molecular genetics, 2012-02, Vol.21 (3), p.526-535

2012

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Advanced Test of Attention in Children with Attention-Deficit/Hyperactivity Disorder in Japan for Evaluation of Methylphenidate and Atomoxetine Effects

Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology, 2016-02, Vol.14 (1), p.79-87

2016

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Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Endocrine Journal, 2020, Vol.67(8), pp.853-857

2020

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An exploratory study to identify neonatal arterial ischemic stroke: A single-center study

Brain & development (Tokyo. 1979), 2022-11, Vol.44 (10), p.672-680

2022

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Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14

Clinical case reports, 2022-11, Vol.10 (11), p.n/a

2022

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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Clinical Pediatric Endocrinology, 2022, Vol.31(3), pp.116-143

2022

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Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

Clinical Pediatric Endocrinology, 2022, Vol.31(3), pp.199-204

2022

Volltextzugriff (PDF)

Selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks: a case report of a 7-year-old boy with autism spectrum disorder

BMC nutrition, 2023-03, Vol.9 (1), p.41-41, Article 41

2023

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Growth differentiation factor 15 as a useful biomarker of heart failure in young patients with unrepaired congenital heart disease of left to right shunt

Journal of cardiology, 2020-06, Vol.75 (6), p.697-701

2020

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Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

Clinical case reports, 2019-01, Vol.7 (1), p.15-18

2019

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Estimate incidence and predictive factors of pediatric central diabetes insipidus in a single-institute study

Endocrine and metabolic science, 2022-06, Vol.7-8, p.100119, Article 100119

2022

Volltextzugriff (PDF)

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Endocrine Journal, 2020, pp.EJ20-0011

2020

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Temporal changes and control variables of growth differentiation factor 15 levels during the first week of life in hospitalised newborn infants

Mitochondrion, 2021-11, Vol.61, p.25-30

2021

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GDF-15, a mitochondrial disease biomarker, is associated with the severity of multiple sclerosis

Journal of the neurological sciences, 2019-10, Vol.405, p.116429-116429, Article 116429

2019

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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Clinical Pediatric Endocrinology, 2022-07, Vol.31 (3), p.116-143

2022

Volltextzugriff (PDF)

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

Human genome variation, 2019-01, Vol.6 (1), p.7, Article 7

2019

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Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

Clinical Pediatric Endocrinology, 2022-07, Vol.31 (3), p.199-204

2022

Volltextzugriff (PDF)

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

Clinical Pediatric Endocrinology, 2022, pp.2021-0069

2022

Volltextzugriff (PDF)

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Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

Natural course of melas in Japanese cohort study

P.72 - GDF-15 expression in mitochondrial and other neurological diseases

GDF-15 expression in mitochondrial and other neurological diseases

P.53Potentially confounding variables of mitochondria biomarker GDF-15

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

GDF-15 expression in multiple sclerosis and limbic encephalitis

Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice

Advanced Test of Attention in Children with Attention-Deficit/Hyperactivity Disorder in Japan for Evaluation of Methylphenidate and Atomoxetine Effects

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

An exploratory study to identify neonatal arterial ischemic stroke: A single-center study

Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

Selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks: a case report of a 7-year-old boy with autism spectrum disorder

Growth differentiation factor 15 as a useful biomarker of heart failure in young patients with unrepaired congenital heart disease of left to right shunt

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder

Estimate incidence and predictive factors of pediatric central diabetes insipidus in a single-institute study

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Temporal changes and control variables of growth differentiation factor 15 levels during the first week of life in hospitalised newborn infants

GDF-15, a mitochondrial disease biomarker, is associated with the severity of multiple sclerosis

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis

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