Lista de obras -

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency ⬇️

artículo científico publicado el 1 de julio de 2011

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

artículo científico publicado en 2016

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

artículo científico publicado en 2009

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

artículo científico publicado en 2016

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

artículo científico publicado en 2020

Cerebral folate deficiency: Analytical tests and differential diagnosis

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

artículo científico publicado en 2017

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

artículo científico publicado en 2005

Disorders of riboflavin metabolism

scientific article published on 11 March 2019

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

scientific article published on 24 July 2019

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

artículo científico publicado en 2004

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

artículo científico publicado en 2015

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

artículo científico publicado en 2010

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2012

Gentamicin, genetic variation and deafness in preterm children

artículo científico publicado en 2014

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

artículo científico publicado en 2002

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

artículo científico publicado en 2013

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study ⬇️

artículo científico publicado el 5 de enero de 2012

Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Leigh map: A novel computational diagnostic resource for mitochondrial disease

artículo científico publicado en 2016

Mitochondrial disease in children

scientific article published on 16 March 2020

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

artículo científico publicado en 2014

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

artículo científico publicado en 2017

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

artículo científico publicado en 2013

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia

artículo científico publicado en 2005

Nuclear Gene-Encoded Leigh Syndrome Overview

artículo científico publicado en 1993

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 08 April 2020

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

artículo científico publicado en 2014

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

artículo científico publicado en 2016

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

artículo científico publicado en 2010

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

artículo científico publicado en 2010

Recognition, investigation and management of mitochondrial disease.

artículo científico publicado en 2017

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

artículo científico publicado en 2014

Retrospective natural history of thymidine kinase 2 deficiency.

artículo científico publicado en 2018

SURF1 deficiency: a multi-centre natural history study.

artículo científico publicado en 2013

Seeking impact: global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders

artículo científico publicado en 2020

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

scientific journal article

TRNT1 deficiency: clinical, biochemical and molecular genetic features

artículo científico publicado en 2016

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

artículo científico publicado en 2013

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

artículo científico publicado en 2014

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

scientific article published on 29 August 2019

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

artículo científico publicado en 2016

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

article

Treatable Leigh-like encephalopathy presenting in adolescence

artículo científico publicado en 2013

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

artículo científico publicado en 2013

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects ⬇️

artículo científico publicado el 30 de julio de 2010

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

artículo científico publicado en 2021

Lista de obras de

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency ⬇️

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Cerebral folate deficiency: Analytical tests and differential diagnosis

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

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

Disorders of riboflavin metabolism

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Gentamicin, genetic variation and deafness in preterm children

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Hearing in 44–45 year olds with m.1555A&gt;G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study ⬇️

Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome

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

Leigh map: A novel computational diagnostic resource for mitochondrial disease

Mitochondrial disease in children

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia

Nuclear Gene-Encoded Leigh Syndrome Overview

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

Recognition, investigation and management of mitochondrial disease.

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

Retrospective natural history of thymidine kinase 2 deficiency.

SURF1 deficiency: a multi-centre natural history study.

Seeking impact: global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

TRNT1 deficiency: clinical, biochemical and molecular genetic features

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

Treatable Leigh-like encephalopathy presenting in adolescence

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects ⬇️

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study ⬇️