Lista de obras -

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

artículo científico publicado en 2009

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

artículo científico publicado en 2015

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

artículo científico publicado en 2016

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

artículo científico publicado en 2014

Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice

artículo científico publicado en 2009

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

artículo científico publicado en 2013

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

artículo científico publicado en 2017

Coenzyme Q10 Prevents Insulin Signaling Dysregulation and Inflammation Prior to Development of Insulin Resistance in Male Offspring of a Rat Model of Poor Maternal Nutrition and Accelerated Postnatal Growth

artículo científico publicado en 2015

Coenzyme Q10 prevents accelerated cardiac aging in a rat model of poor maternal nutrition and accelerated postnatal growth

artículo científico publicado en 2013

Coenzyme Q10 prevents hepatic fibrosis, inflammation, and oxidative stress in a male rat model of poor maternal nutrition and accelerated postnatal growth ⬇️

artículo científico publicado en 2015

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

artículo científico publicado en 2016

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

artículo científico publicado en 2015

Nutritional programming of coenzyme Q: potential for prevention and intervention?

artículo científico publicado en 2014

Poor maternal nutrition and accelerated postnatal growth induces an accelerated aging phenotype and oxidative stress in skeletal muscle of male rats

scientific article published on September 2016

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

artículo científico publicado en 2016

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

artículo científico publicado en 2010

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

artículo científico publicado en 2017

Lista de obras de

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Altered skeletal muscle insulin signaling and mitochondrial complex II-III linked activity in adult offspring of obese mice

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Coenzyme Q10 Prevents Insulin Signaling Dysregulation and Inflammation Prior to Development of Insulin Resistance in Male Offspring of a Rat Model of Poor Maternal Nutrition and Accelerated Postnatal Growth

Coenzyme Q10 prevents accelerated cardiac aging in a rat model of poor maternal nutrition and accelerated postnatal growth

Coenzyme Q10 prevents hepatic fibrosis, inflammation, and oxidative stress in a male rat model of poor maternal nutrition and accelerated postnatal growth ⬇️

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Nutritional programming of coenzyme Q: potential for prevention and intervention?

Poor maternal nutrition and accelerated postnatal growth induces an accelerated aging phenotype and oxidative stress in skeletal muscle of male rats

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.