Lista de obras - Robert D S Pitceathly - Dominio Público Uruguay

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

artículo científico publicado en 2016

A dizzy and disorientated DJ.

artículo científico publicado en 2011

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

artículo científico publicado en 2019

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

artículo científico publicado en 2012

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

scientific article published on 01 April 2019

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

artículo científico publicado en 2016

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

artículo científico publicado en 2013

CSF lactate

scientific article published on 13 May 2020

Chronic pain is common in mitochondrial disease

scientific article published on 29 February 2020

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"

artículo científico publicado en 2020

Consensus-based statements for the management of mitochondrial stroke-like episodes

artículo científico publicado en 2019

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

artículo científico publicado en 2021

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

scientific article published on 16 July 2020

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

scientific article published on 31 October 2019

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

artículo científico publicado en 2012

Drug repurposing in neurological diseases: an integrated approach to reduce trial and error

artículo científico publicado en 2019

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

artículo científico publicado en 2016

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

artículo científico publicado en 2020

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

artículo científico publicado en 2015

Forecasting stroke-like episodes and outcomes in mitochondrial disease

artículo científico publicado en 2021

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

artículo científico publicado en 2012

Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes

scientific article published on 16 August 2019

Interventions for dysphagia in long-term, progressive muscle disease

artículo científico publicado en 2016

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

artículo científico publicado en 2011

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

scientific article published on 01 August 2019

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

artículo científico publicado en 2018

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Mitochondrial Extrapyramidal Syndromes: Using Age and Phenomenology to Guide Genetic Testing

artículo científico publicado en 2016

Mitochondrial myopathies in adults and children: management and therapy development.

artículo científico publicado en 2014

Moving Towards Clinical Trials for Mitochondrial Diseases

artículo científico publicado en 2020

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

scientific article published on 18 March 2020

Muscle MRI in Bethlem myopathy

artículo científico publicado en 2013

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit.

artículo científico publicado en 2018

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

scientific article published on 02 June 2020

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

artículo científico publicado en 2013

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

artículo científico publicado en 2019

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

artículo científico publicado en 2016

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

artículo científico publicado en 2014

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

scientific article published on 11 June 2020

Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines

scientific article published on 12 December 2019

Rhabdomyolysis: a genetic perspective.

artículo científico publicado en 2015

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus

artículo científico publicado en 2020

Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice

artículo científico publicado en 2012

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

article

Toward a mtDNA locus-specific mutation database using the LOVD platform

artículo científico publicado en 2012

Urogenital symptoms in mitochondrial disease: overlooked and undertreated

scientific article published on 30 April 2019

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

artículo científico publicado en 2021

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

scientific article published on 08 July 2019

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

artículo científico publicado en 2018

Whole-genome sequencing and the clinician: a tale of two cities

artículo científico publicado en 2014

Lista de obras de Robert D S Pitceathly

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

A dizzy and disorientated DJ.

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

CSF lactate

Chronic pain is common in mitochondrial disease

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"

Consensus-based statements for the management of mitochondrial stroke-like episodes

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

Drug repurposing in neurological diseases: an integrated approach to reduce trial and error

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

Forecasting stroke-like episodes and outcomes in mitochondrial disease

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

Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes

Interventions for dysphagia in long-term, progressive muscle disease

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Mitochondrial Extrapyramidal Syndromes: Using Age and Phenomenology to Guide Genetic Testing

Mitochondrial myopathies in adults and children: management and therapy development.

Moving Towards Clinical Trials for Mitochondrial Diseases

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

Muscle MRI in Bethlem myopathy

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.

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

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines

Rhabdomyolysis: a genetic perspective.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus

Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice

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

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

Toward a mtDNA locus-specific mutation database using the LOVD platform

Urogenital symptoms in mitochondrial disease: overlooked and undertreated

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

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

Whole-genome sequencing and the clinician: a tale of two cities