Lista de obras - Andrew M Schaefer - Dominio Público Uruguay

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

artículo científico publicado en 2019

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

artículo científico publicado en 2005

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

artículo científico publicado en 2002

A scale to monitor progression and treatment of mitochondrial disease in children.

artículo científico publicado en 2006

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 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

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

artículo científico publicado en 2018

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination

artículo científico publicado en 2017

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

article

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

artículo científico publicado en 2006

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

artículo científico publicado en 2007

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

scientific article published on 14 March 2007

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

artículo científico publicado en 2013

Endocrine disorders in mitochondrial disease.

artículo científico publicado en 2013

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

artículo científico publicado en 2006

Epilepsy in adults with mitochondrial disease: A cohort study.

artículo científico publicado en 2015

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

artículo científico publicado en 2004

Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.

artículo científico publicado en 2008

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

scientific article published on 01 June 2019

Homoplasmy, heteroplasmy, and mitochondrial dystonia

scientific article published on 01 August 2007

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

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Mitochondrial disease in adults: a scale to monitor progression and treatment

scientific article published on 01 June 2006

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

artículo científico publicado en 2007

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

scientific article published on 01 April 2007

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

artículo científico publicado en 2015

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

artículo científico publicado en 2014

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.

artículo científico publicado en 2004

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

artículo científico publicado en 2004

Ocular motility findings in chronic progressive external ophthalmoplegia

scientific article published on 01 March 2005

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

artículo científico publicado en 2017

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

artículo científico publicado en 2005

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

artículo científico publicado en 2006

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

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 and progression of diabetes in mitochondrial disease

artículo científico publicado en 2007

Prevalence of mitochondrial DNA disease in adults

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Rapid-onset, linezolid-induced lactic acidosis in MELAS ⬇️

artículo científico publicado el 1 de septiembre de 2011

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

scientific article published on 10 August 2016

The diagnosis of mitochondrial muscle disease.

artículo científico publicado en 2004

The epidemiology of mitochondrial disorders--past, present and future

artículo científico publicado en 2004

The mitochondrial genome and mitochondrial muscle disorders.

artículo científico publicado en 2001

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

article

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

artículo científico publicado en 2018

Lista de obras de Andrew M Schaefer

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

A scale to monitor progression and treatment of mitochondrial disease in children.

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

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.

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene

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

Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination

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

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

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

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

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

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

Endocrine disorders in mitochondrial disease.

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions

Epilepsy in adults with mitochondrial disease: A cohort study.

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.

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

Homoplasmy, heteroplasmy, and mitochondrial dystonia

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

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

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

Mitochondrial disease in adults: a scale to monitor progression and treatment

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

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

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

Ocular motility findings in chronic progressive external ophthalmoplegia

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

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

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

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

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease

Prevalence and progression of diabetes in mitochondrial disease

Prevalence of mitochondrial DNA disease in adults

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

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

Rapid-onset, linezolid-induced lactic acidosis in MELAS ⬇️

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

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

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

The diagnosis of mitochondrial muscle disease.

The epidemiology of mitochondrial disorders--past, present and future

The mitochondrial genome and mitochondrial muscle disorders.

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

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