List of works - Andrew M Schaefer

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

scientific article published on 04 June 2019

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

scientific article

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

scientific article

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

scientific article published on 22 November 2006

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

scientific article published on October 2015

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

scientific article published on 12 August 2015

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

scientific article

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

scientific article published on 3 January 2018

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

scientific article

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

scientific article published on 10 April 2017

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

scientific article published on 01 April 2017

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

scientific article published on 25 April 2016

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

scientific article published in January 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

scientific article published on 13 December 2019

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

scientific article published on 03 June 2013

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

scientific article published in September 2006

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

scientific article published on 31 May 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

scientific article published on 23 October 2013

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

scientific article

Endocrine disorders in mitochondrial disease.

scientific article published on 13 June 2013

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

scientific article published on 3 November 2006

Epilepsy in adults with mitochondrial disease: A cohort study.

scientific article published on 18 September 2015

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

scientific article published in April 2004

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

scientific article

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

scientific article published on 14 November 2019

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

scientific article

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

scientific article published on 24 February 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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on August 2004

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

scientific article

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

scientific article published on 15 December 2017

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

scientific article published in July 2005

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

scientific article published on 01 May 2006

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

scientific article published in August 2019

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

scientific article

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

scientific article published on 7 February 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

scientific article published on 26 July 2007

Prevalence of mitochondrial DNA disease in adults

scientific article

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

scientific article published on 28 March 2015

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

scientific article published on 25 July 2016

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

scientific article published on 01 September 2011

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

scientific article published in November 2008

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

scientific article published on 17 July 2015

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

scientific article published on 10 August 2016

The diagnosis of mitochondrial muscle disease.

scientific article published on April 2004

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

scientific article

The mitochondrial genome and mitochondrial muscle disorders.

scientific article

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.

scientific article published in June 2018

List of works by 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.