Lista de obras - Grainne Gorman - Dominio Público Uruguay

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

artículo científico publicado en 2013

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

artículo científico publicado en 2005

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

artículo científico publicado en 2015

Adult-onset Mendelian PEO Associated with Mitochondrial Disease

artículo científico publicado en 2014

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

artículo científico publicado en 2011

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation

artículo científico publicado en 2015

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

artículo científico publicado en 2012

An unusual gait following the discovery of a new disease

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy

scientific article published on 10 July 2018

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

artículo científico publicado en 2016

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

artículo científico publicado en 2012

Childhood presentation of “adult” polyglucosan body disease

artículo científico publicado en 2013

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

artículo científico publicado en 2017

Clinical Reasoning: An unusual case of papilledema after orthotopic liver transplantation

artículo científico publicado en 2009

Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.

artículo científico publicado en 2009

Clinical reasoning: a case of Wegener granulomatosis complicated by seizures and headaches: curiouser and curiouser

artículo científico publicado en 2009

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

artículo científico publicado en 2016

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

artículo científico publicado en 2015

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

article

Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability

article

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Decreased male reproductive success in association with mitochondrial dysfunction

artículo científico publicado en 2017

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

artículo científico publicado en 2013

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence

artículo científico publicado en 2009

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

artículo científico publicado en 2013

Disease burden of myotonic dystrophy type 1

artículo científico publicado en 2019

Disease progression in patients with single, large-scale mitochondrial DNA deletions

artículo científico publicado en 2013

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

artículo científico publicado en 2014

Epilepsy in adults with mitochondrial disease: A cohort study.

artículo científico publicado en 2015

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

artículo científico publicado en 2015

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia

artículo científico publicado en 2013

Generating hand dysaesthesiae: the "GHD phenomenon" - straight to the diagnosis

artículo científico publicado en 2009

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

scientific article published on 08 August 2019

Habitual physical activity in mitochondrial disease.

artículo científico publicado en 2011

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

scientific article published on 01 June 2019

How can we treat mitochondrial encephalomyopathies? Approaches to therapy

artículo científico publicado en 2008

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

artículo científico publicado en 2019

Initial development and validation of a mitochondrial disease quality of life scale.

artículo científico publicado en 2013

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

article

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

artículo científico publicado en 2013

Leigh syndrome caused by mutations in is associated with a better prognosis

article

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

artículo científico publicado en 2018

Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review

scientific article published on January 2017

Mitochondrial DNA abnormalities in ophthalmological disease

artículo científico publicado en 2011

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

artículo científico publicado en 2013

Mitochondrial Donation - Which Women Could Benefit?

scientific article published on 01 May 2019

Mitochondrial diseases

Mitochondrial donation--how many women could benefit?

artículo científico publicado en 2015

Mitochondrial donation: from test tube to clinic

artículo científico publicado en 2018

Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women

artículo científico publicado en 2018

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

artículo científico publicado en 2014

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

artículo científico publicado en 2015

Novel reproductive technologies to prevent mitochondrial disease

artículo científico publicado en 2017

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

artículo científico publicado en 2016

Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions

artículo científico publicado en 2010

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

artículo científico publicado en 2017

Orthostatic intolerance is common in chronic disease--a clinical cohort study

scientific article published on 26 April 2014

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

artículo científico publicado en 2018

Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients

artículo científico publicado en 2017

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

artículo científico publicado en 2015

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

artículo científico publicado en 2018

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

scientific article published on June 2015

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

artículo científico publicado en 2015

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.

artículo científico publicado en 2012

Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody

artículo científico publicado en 2008

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

artículo científico publicado en 2016

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

artículo científico publicado en 2011

Reply

scientific article published on 25 July 2016

Retrospective natural history of thymidine kinase 2 deficiency.

artículo científico publicado en 2018

Review: Central nervous system involvement in mitochondrial disease

artículo científico publicado en 2016

Scientific and Ethical Issues in Mitochondrial Donation

artículo científico publicado en 2018

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

article

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

artículo científico publicado en 2018

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

artículo científico publicado en 2016

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

artículo científico publicado en 2015

Systematic review of cognitive deficits in adult mitochondrial disease

scientific article published on 22 October 2019

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

scientific article published on 10 August 2016

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease

artículo científico publicado en 2018

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

artículo científico publicado en 2010

The diagnosis of posterior reversible encephalopathy syndrome

artículo científico publicado en 2015

The minimum prevalence of CADASIL in northeast England.

artículo científico publicado en 2012

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

artículo científico publicado en 2011

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

article

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

artículo científico publicado en 2017

Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop

artículo científico publicado en 2015

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

artículo científico publicado en 2014

Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.

artículo científico publicado en 2009

Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity.

artículo científico publicado en 2015

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

artículo científico publicado en 2012

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

artículo científico publicado en 2018

Lista de obras de Grainne Gorman

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Adult-onset Mendelian PEO Associated with Mitochondrial Disease

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation

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

An unusual gait following the discovery of a new disease

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

Childhood presentation of “adult” polyglucosan body disease

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Clinical Reasoning: An unusual case of papilledema after orthotopic liver transplantation

Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.

Clinical reasoning: a case of Wegener granulomatosis complicated by seizures and headaches: curiouser and curiouser

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

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

Decreased male reproductive success in association with mitochondrial dysfunction

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

Disease burden of myotonic dystrophy type 1

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

Epilepsy in adults with mitochondrial disease: A cohort study.

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia

Generating hand dysaesthesiae: the "GHD phenomenon" - straight to the diagnosis

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Habitual physical activity in mitochondrial disease.

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

How can we treat mitochondrial encephalomyopathies? Approaches to therapy

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

Initial development and validation of a mitochondrial disease quality of life scale.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Leigh syndrome caused by mutations in is associated with a better prognosis

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

Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review

Mitochondrial DNA abnormalities in ophthalmological disease

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

Mitochondrial Donation - Which Women Could Benefit?

Mitochondrial diseases

Mitochondrial donation--how many women could benefit?

Mitochondrial donation: from test tube to clinic

Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women

Multi-system neurological disease is common in patients with OPA1 mutations

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

Novel reproductive technologies to prevent mitochondrial disease

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Orthostatic intolerance is common in chronic disease--a clinical cohort study

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

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

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.

Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Reply

Retrospective natural history of thymidine kinase 2 deficiency.

Review: Central nervous system involvement in mitochondrial disease

Scientific and Ethical Issues in Mitochondrial Donation