Y. Koga

发表

MELAS: a nationwide prospective cohort study of 96 patients in Japan.

T. Matsuishi, T. Kakuma, S. Yatsuga, 2012, Biochimica et biophysica acta.

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

S. Dimauro, M. Zeviani, C. Bruno, 1999, The Journal of pediatrics.

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene

Y. Nakamura, Y. Koga, N. Wada, 2000, Human mutation.

Heterogeneous presentation in A3243G mutation in the mitochondrial tRNALeu(UUR) gene

Y. Koga, H. Kato, Y. Akita, 2000, Archives of disease in childhood.

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

I. Nonaka, K. Nihei, Y. Koga, 1988, Annals of neurology.

l-Arginine improves the symptoms of strokelike episodes in MELAS

S. Fujimoto, T. Matsuishi, S. Yatsuga, 2005, Neurology.

Chronic progressive external ophthalmoplegia: A correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

Ikuya Nonaka, I. Nonaka, S. Horai, 1990, Journal of the Neurological Sciences.

Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study

A. Kikuchi, Y. Goto, I. Nonaka, 2004, Acta Neuropathologica.

Evidence of ROS generation by mitochondria in cells with impaired electron transport chain and mitochondrial DNA damage.

H. Majima, H. Yen, Y. Koga, 2007, Mitochondrion.

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

S. Yonemitsu, Y. Koga, Tomoko S. Kato, 2016, The Tohoku journal of experimental medicine.

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

Yu‐ichi Goto, S. Yonemitsu, Y. Koga, 2016, The Tohoku journal of experimental medicine.

Once-Weekly Somapacitan vs Daily GH in Children With GH Deficiency: Results From a Randomized Phase 2 Trial

A. Eliakim, M. Phillip, T. Battelino, 2020, The Journal of clinical endocrinology and metabolism.

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

T. Ide, H. Koga, K. Mitsuyama, 2022, Scientific Reports.

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

O. Iwata, S. Iwata, Y. Yamashita, 2021, Mitochondrion.

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

K. Suda, Shintaro Kishimoto, S. Yatsuga, 2019, Journal of cardiology.

Inappropriate intracranial hemodynamics in the natural course of MELAS

T. Matsuishi, M. Ishibashi, S. Yatsuga, 2008, Brain and Development.

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

S. Yatsuga, Y. Koga, Mamoru Saikusa, 2013, Pediatrics international : official journal of the Japan Pediatric Society.

Tissue specificity in cytochrome c oxidase deficient myopathy

I. Nonaka, Masahiko Yamamoto, Y. Koga, 1989, Journal of the Neurological Sciences.

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

S. Dimauro, I. Nonaka, I. Nishino, 2000, Nature.

Therapeutic potential of pyruvate therapy for mitochondrial diseases.

N. Fuku, Masashi Tanaka, Y. Nishigaki, 2007, Mitochondrion.

Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease.

E. Inoue, Masashi Tanaka, Kazutaka Nashiki, 2019, Mitochondrion.

Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.

R. Sakuta, Y. Goto, I. Nishino, 2016, The Journal of clinical endocrinology and metabolism.

GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases.

T. Kojima, Masashi Tanaka, Masafumi Ito, 2015, Mitochondrion.

Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome.

T. Matsuishi, Y. Yamashita, S. Nagamitsu, 2004, Pediatric neurology.

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

T. Matsuishi, N. Povalko, J. Nishioka, 2010, Annals of the New York Academy of Sciences.

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

Takako Matsumoto, S. Yatsuga, J. Nishioka, 2017, Human Genome Variation.

Endothelial dysfunction in MELAS improved by l-arginine supplementation

T. Matsuishi, M. Ishii, S. Yatsuga, 2006, Neurology.

A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement

I. Yoshida, Y. Koga, H. Kato, 1996, Human Genetics.

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia

T. Matsuishi, T. Kakuma, S. Yatsuga, 2015, Brain and Development.

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

Y. Sunada, Yu‐ichi Goto, T. Murakami, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Molecular pathology of MELAS and L-arginine effects.

T. Matsuishi, S. Yatsuga, N. Povalko, 2012, Biochimica et biophysica acta.

Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy

S. Dimauro, I. Nonaka, Masashi Tanaka, 1990, Journal of the Neurological Sciences.

Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency

A. Kikuchi, I. Nonaka, S. Miyabayashi, 1988, Brain and Development.

BCS1L mutations produce Fanconi syndrome with developmental disability

K. Yoshiura, K. Kosaki, K. Murayama, 2021, Journal of Human Genetics.

Cytochrome c oxidase deficiency with acute onset and rapid recovery.

I. Nonaka, Y. Koga, S. Hamano, 1990, Pediatric neurology.

Mitochondrial diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2016, Nature Reviews Disease Primers.

Crystallographic Identification of Tophaceous Substances by X-ray Diffraction Method

Y. Koga, Y. Nakamura, K. Yamanaka, 1984 .

Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.

T. Matsuishi, S. Yatsuga, N. Povalko, 2006, Mitochondrion.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Y. Goto, I. Nonaka, S. Horai, 1992, Neurology.

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

Y. Fukumoto, T. Kojima, Masashi Tanaka, 2015, Annals of neurology.

Muscle pathology in cytochromec oxidase deficiency

I. Nonaka, K. Nihei, Y. Koga, 1988, Acta Neuropathologica.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia

S. Dimauro, E. Schon, M. Zeviani, 1991 .

A Novel Myc-target Gene, mimitin, That Is Involved in Cell Proliferation of Esophageal Squamous Cell Carcinoma*

H. Fujita, K. Shirouzu, M. Tsuneoka, 2005, Journal of Biological Chemistry.

In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes

E. Schon, M. King, Y. Koga, 1995, Molecular and cellular biology.

Long-term analysis of differentiation in human myoblasts repopulated with mitochondria harboring mtDNA mutations.

M. King, A. Miranda, Y. Koga, 1999, Biochemical and biophysical research communications.

Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans.

Tsutomu Suzuki, K. Tomizawa, H. Matsui, 2015, Cell metabolism.

Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

I. Nonaka, R. Yamanaka, Y. Koga, 2004, Acta Neuropathologica.

Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA

L. Peltonen, S. Dimauro, E. Schon, 1992, Journal of the Neurological Sciences.

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

Yasuhiro Suzuki, M. Kubota, E. Inoue, 2018, Journal of Neurology.

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

A. Imai-Okazaki, K. Murayama, Jun Kido, 2021, Brain and Development.

Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes

T. Matsuishi, Y. Koga, H. Kato, 2000, Acta Neuropathologica.

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

S. Dimauro, E. Schon, R. Rizzuto, 1990, Nucleic acids research.

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

Hirotoshi Nakamura, S. Sasaki, S. Yatsuga, 2012, Journal of Medical Case Reports.

Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene

E. Schon, M. King, Y. Koga, 1995, Muscle & nerve. Supplement.

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

E. Schon, M. King, Y. Koga, 1992, Molecular and cellular biology.

Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase.

E. Schon, M. Zeviani, R. Rizzuto, 1992, Gene.

MARINESCO‐SJOGREN SYNDROME: CAN THE DIAGNOSIS BE MADE PRIOR TO CATARACT FORMATION?

T. Matsuishi, I. Nonaka, H. Kato, 1997, Muscle & nerve.

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Y. Katoh-Fukui, S. Yatsuga, Y. Koga, 2019, Molecular genetics & genomic medicine.

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

I. Nonaka, H. Nishi, H. Harada, 2018, Journal of Human Genetics.

Effect of l-arginine on synaptosomal mitochondrial function

T. Matsuishi, S. Yatsuga, N. Povalko, 2008, Brain and Development.

Effects of L-arginine on the acute phase of strokes in three patients with MELAS.

T. Matsuishi, M. Ishibashi, S. Yatsuga, 2002, Neurology.

MELAS and L-arginine therapy.

T. Matsuishi, S. Yatsuga, N. Povalko, 2007, Mitochondrion.

Evaluation of Systemic Redox States in Patients Carrying the MELAS A3243G Mutation in Mitochondrial DNA

M. Ikawa, M. Yoneda, M. Kuriyama, 2012, European Neurology.

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

M. Ikawa, N. Povalko, Y. Koga, 2019, Current opinion in clinical nutrition and metabolic care.

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

T. Abe, Y. Yamashita, S. Yatsuga, 2016, Journal of Neurology.

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

T. Matsuishi, E. Naito, Masashi Tanaka, 2012, Brain and Development.

Growth Differentiation Factor 15 and Fibroblast Growth Factor 21: Novel Biomarkers for Mitochondrial Diseases

S. Yatsuga, Y. Koga, 2014 .

Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.

K. Murayama, Masashi Tanaka, F. Nozaki, 2014, Molecular genetics and metabolism.

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

E. Inoue, Y. Fukumoto, K. Fujii, 2020, Journal of inherited metabolic disease.

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

J. Christodoulou, S. Rahman, F. Scaglia, 2021, Advanced genetics.

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10

Y. Okazaki, A. Ohtake, K. Murayama, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy.

E. Zakharova, N. Povalko, Y. Koga, 2005, Mitochondrion.

Biomarker changes associated with clinical symptoms in MELAS patient

S. Sakoda, Toshio Saito, H. Fujimura, 2019, Neurology and Clinical Neuroscience.

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

Masahiko Watanabe, K. Ishii, A. Tamaoka, 2019, Journal of the Neurological Sciences.

Increased mitochondrial processing intermediates associated with three tRNALeu(UUR) gene mutations

T. Matsuishi, S. Yatsuga, Y. Koga, 2003, Neuromuscular Disorders.

ADHD-like behavior in a patient with hypothalamic hamartoma

T. Matsuishi, Y. Yamashita, S. Yatsuga, 2016, Brain and Development.

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

N. Fuku, A. Ohtake, K. Murayama, 2010, Biochimica et biophysica acta.

Management of acute metabolic decompensation in maple syrup urine disease: A multi‐center study

Y. Kuroda, Kazuko Hashimoto, Y. Koga, 1999, Pediatrics international : official journal of the Japan Pediatric Society.

Inter- and/or Intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy

S. Kato, Y. Koga, H. Kato, 2001, Acta Neuropathologica.

Partial deficiency of subunits in complex I or IV of patients with mitochondrial myopathies.

I. Nonaka, T. Ozawa, M. Nishikimi, 1987, Biochemistry international.

Mitochondrial DNA and RNA processing in MELAS

S. Dimauro, E. Schon, M. King, 1996, Annals of neurology.

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

S. Dimauro, C. Liou, T. Fujii, 2010, Mitochondrion.

[L-arginine therapy on MELAS].

Y. Koga, 2008, Rinshō shinkeigaku Clinical neurology.

Focal cytochrome c oxidase deficiency in various neuromuscular diseases

I. Nonaka, Masahiko Yamamoto, Y. Koga, 1989, Journal of the Neurological Sciences.

Mitochondrial Diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2012, Journal of epilepsy research.

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

S. Yatsuga, Y. Koga, M. Kagami, 2018, Clinical case reports.

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

S. Dimauro, E. Schon, M. Zeviani, 1989, The New England journal of medicine.

Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase.

M. I. Lomax, E. Schon, L. Grossman, 1990, Nucleic acids research.

MELAS and l-arginine therapy

Y. Koga, 2004, Brain and Development.

Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.

E. Schon, M. King, Y. Koga, 1993, Nucleic acids research.

MELAS exhibits dominant negative effects on mitochondrial RNA processing

Y. Koga, M. Yoshino, H. Kato, 1998, Annals of neurology.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Developmental delay and failure to thrive in a 7-month-old baby boy with spontaneous transient Graves’ thyrotoxicosis: a case report

Takako Sasaki, Tomoko Saikusa, S. Yatsuga, 2016, Journal of Medical Case Reports.