Lista de obras - Y Koga - Dominio Público Uruguay

A case of chronic toluene intoxication with atrophy of cerebrum, cerebellum and brainstem on CT and MRI

artículo científico publicado el 1 de abril de 1992

A new diagnostic indication device of a biomarker GDF15 for mitochondrial diseases: from laboratory to automated inspection

scientific article published on 23 September 2020

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

artículo científico publicado en 2005

ADHD-like behavior in a patient with hypothalamic hamartoma

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado el 31 de marzo de 2011

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

scientific article published on 07 February 2019

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

scientific journal article

Complex II

artículo científico publicado en 2002

Cytochrome c oxidase deficiency with acute onset and rapid recovery

scientific article published on 01 September 1990

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 ⬇️

artículo científico publicado el 1 de febrero de 1992

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

scientific article published on 10 August 2016

Diagnosis and treatment of mitochondrial myopathy--update review

artículo científico publicado el 1 de marzo de 2010

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

artículo científico publicado el 1 de octubre de 1992

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

artículo científico publicado en 2016

Effect of L-arginine on synaptosomal mitochondrial function

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Endothelial dysfunction in MELAS improved by l-arginine supplementation.

artículo científico publicado en 2006

Evaluation of systemic redox states in patients carrying the MELAS A3243G mutation in mitochondrial DNA

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

scientific article published on 01 December 1988

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

artículo científico publicado el 11 de febrero de 1993

Focal cytochrome c oxidase deficiency in various neuromuscular diseases

artículo científico publicado en 1989

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

scientific article published on 22 August 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.

scientific article published on 14 October 2015

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

artículo científico publicado en 1995

Inhibition of mitochondrial functions by margosa oil: possible implications in the pathogenesis of Reye's syndrome

artículo científico publicado en 1987

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

artículo científico publicado en 2001

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

artículo científico publicado en 2016

L-arginine improves the symptoms of strokelike episodes in MELAS.

artículo científico publicado en 2005

L-arginine therapy on MELAS

artículo científico publicado en 2008

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

artículo científico publicado en 1999

MELAS and L-arginine therapy

artículo científico publicado en 2007

MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.

artículo científico publicado en 2010

MELAS exhibits dominant negative effects on mitochondrial RNA processing ⬇️

artículo científico publicado el 1 de junio de 1998

Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip ⬇️

artículo científico publicado el 1 de abril de 1998

Marinesco-Sjogren syndrome: can the diagnosis be made prior to cataract formation?

artículo científico publicado en 1997

Mitochondrial diseases

Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study

artículo científico publicado en 1991

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

artículo científico publicado en 2005

Molecular pathology of MELAS and l-arginine effects ⬇️

artículo científico publicado el 14 de septiembre de 2011

Muscle pathology in cytochrome c oxidase deficiency

artículo científico publicado en 1988

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia

artículo científico publicado en 2014

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome

artículo científico publicado en 1997

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

artículo científico publicado en 1990

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 1990

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

artículo científico publicado en 2016

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

scientific article published on 01 October 2019

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

artículo científico publicado en 2018

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

scientific article published on 01 August 1999

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis

artículo científico publicado el 17 de julio de 1992

Therapeutic potential of pyruvate therapy for mitochondrial diseases.

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Tissue specificity in cytochrome c oxidase deficient myopathy

artículo científico publicado en 1989

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

artículo científico publicado en 1992

[A case of complex I deficiency with episodic respiratory distress]

artículo científico publicado en 1990

[Complex III]

artículo científico publicado en 2002

[Migraine headache and mitochondrial DNA abnormality]

artículo científico publicado en 2005

Lista de obras de Y Koga

A case of chronic toluene intoxication with atrophy of cerebrum, cerebellum and brainstem on CT and MRI

A new diagnostic indication device of a biomarker GDF15 for mitochondrial diseases: from laboratory to automated inspection

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

ADHD-like behavior in a patient with hypothalamic hamartoma

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

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

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

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

Complex II

Cytochrome c oxidase deficiency with acute onset and rapid recovery

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 ⬇️

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

Diagnosis and treatment of mitochondrial myopathy--update review

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

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

Effect of L-arginine on synaptosomal mitochondrial function

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

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

Endothelial dysfunction in MELAS improved by l-arginine supplementation.

Evaluation of systemic redox states in patients carrying the MELAS A3243G mutation in mitochondrial DNA

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

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

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

Focal cytochrome c oxidase deficiency in various neuromuscular diseases

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

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

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

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.

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

Inhibition of mitochondrial functions by margosa oil: possible implications in the pathogenesis of Reye's syndrome

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

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

L-arginine improves the symptoms of strokelike episodes in MELAS.

L-arginine therapy on MELAS

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

MELAS and L-arginine therapy

MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.

MELAS exhibits dominant negative effects on mitochondrial RNA processing ⬇️

Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip ⬇️

Marinesco-Sjogren syndrome: can the diagnosis be made prior to cataract formation?

Mitochondrial diseases

Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study

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

Molecular pathology of MELAS and l-arginine effects ⬇️

Muscle pathology in cytochrome c oxidase deficiency

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome

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

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

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

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

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

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

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

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

The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: a model for pathogenesis

Therapeutic potential of pyruvate therapy for mitochondrial diseases.

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

Tissue specificity in cytochrome c oxidase deficient myopathy

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

[A case of complex I deficiency with episodic respiratory distress]

[Complex III]

[Migraine headache and mitochondrial DNA abnormality]

[The treatment of mitochondrial disorders, present and future]