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Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

Annals of neurology, 2015-11, Vol.78 (5), p.814-823

2015

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Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Current opinion in clinical nutrition and metabolic care, 2020-01, Vol.23 (1), p.17-22

2020

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MELAS: A nationwide prospective cohort study of 96 patients in Japan

Biochimica et biophysica acta, 2012-05, Vol.1820 (5), p.619-624

2012

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Growth differentiation factor 15 as a novel diagnostic and therapeutic marker for autoimmune hepatitis

Scientific reports, 2022-05, Vol.12 (1), p.8759-8759, Article 8759

2022

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Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

Journal of neurology, neurosurgery and psychiatry, 2019-05, Vol.90 (5), p.529-536

2019

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Therapeutic regimen of l-arginine for MELAS: 9-year, prospective, multicenter, clinical research

Journal of neurology, 2018-12, Vol.265 (12), p.2861-2874

2018

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Mitochondrial research in Asia: A step for the mito-global conference

Biochimica et biophysica acta. General subjects, 2020-09, Vol.1864 (9), p.129638-129638, Article 129638

2020

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Cdk5rap1-Mediated 2-Methylthio Modification of Mitochondrial tRNAs Governs Protein Translation and Contributes to Myopathy in Mice and Humans

Cell metabolism, 2015-03, Vol.21 (3), p.428-442

2015

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MELAS and l-arginine therapy: pathophysiology of stroke-like episodes

Annals of the New York Academy of Sciences, 2010-07, Vol.1201 (1), p.104-110

2010

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BCS1L mutations produce Fanconi syndrome with developmental disability

Journal of human genetics, 2022-03, Vol.67 (3), p.143-148

2022

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Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

Journal of human genetics, 2018-02, Vol.63 (2), p.249-254

2018

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Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report

Brain & development (Tokyo. 1979), 2022-01, Vol.44 (1), p.56-62

2022

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Molecular pathology of MELAS and l-arginine effects

Biochimica et biophysica acta, 2012-05, Vol.1820 (5), p.608-614

2012

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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection

Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.358-366

2021

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l-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS

Journal of neurology, 2016-08, Vol.263 (8), p.1666-1668

2016

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Glycogenic hepatopathy and non-alcoholic fatty liver disease in type 1 diabetes patients

Pediatrics international, 2013-12, Vol.55 (6), p.806-807

2013

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Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

Brain & development (Tokyo. 1979), 2012-02, Vol.34 (2), p.87-91

2012

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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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Successful Glycemic Control Decreases the Elevated Serum FGF21 Level without Affecting Normal Serum GDF15 Levels in a Patient with Mitochondrial Diabetes

The Tohoku Journal of Experimental Medicine, 2016, Vol.239(2), pp.89-94

2016

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ADHD-like behavior in a patient with hypothalamic hamartoma

Brain & development (Tokyo. 1979), 2016-01, Vol.38 (1), p.145-148

2016

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New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia

Brain & development (Tokyo. 1979), 2015-03, Vol.37 (3), p.292-298

2015

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Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

The Tohoku Journal of Experimental Medicine, 2016, Vol.238(4), pp.311-316

2016

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Biomarker changes associated with clinical symptoms in MELAS patient

Neurology and clinical neuroscience, 2019-11, Vol.7 (6), p.344-346

2019

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Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Genetics & genomics next, 2022-03, Vol.3 (1), p.n/a

2022

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The first Japanese case of central precocious puberty with a novel MKRN3 mutation

Human genome variation, 2017-05, Vol.4 (1), p.17017-17017, Article 17017

2017

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Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

Arginine therapy in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

MELAS: A nationwide prospective cohort study of 96 patients in Japan

Growth differentiation factor 15 as a novel diagnostic and therapeutic marker for autoimmune hepatitis

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

Therapeutic regimen of l-arginine for MELAS: 9-year, prospective, multicenter, clinical research

Mitochondrial research in Asia: A step for the mito-global conference

Cdk5rap1-Mediated 2-Methylthio Modification of Mitochondrial tRNAs Governs Protein Translation and Contributes to Myopathy in Mice and Humans

MELAS and l-arginine therapy: pathophysiology of stroke-like episodes

BCS1L mutations produce Fanconi syndrome with developmental disability

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report

Molecular pathology of MELAS and l-arginine effects

A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection

l-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS

Glycogenic hepatopathy and non-alcoholic fatty liver disease in type 1 diabetes patients

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

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

Successful Glycemic Control Decreases the Elevated Serum FGF21 Level without Affecting Normal Serum GDF15 Levels in a Patient with Mitochondrial Diabetes

ADHD-like behavior in a patient with hypothalamic hamartoma

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia

Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Biomarker changes associated with clinical symptoms in MELAS patient

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

The first Japanese case of central precocious puberty with a novel MKRN3 mutation

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