About: Andrew M Schaefer

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

researcher ORCID ID = 0000-0001-9891-7332

Attributes	Values
rdf:type	Item
description	forskare (sv) ikertzailea (eu) 研究者 (ja) wetenschapper (nl) дослідник (uk) эрдэмтэн (mn) изилдөөчү (ky) researcher ORCID ID = 0000-0001-9891-7332 (en)
rdfs:label	Andrew M Schaefer (en) Andrew M Schaefer (es) Andrew M Schaefer (nl) Andrew M Schaefer (ast)
skos:prefLabel	Andrew M Schaefer (en) Andrew M Schaefer (es) Andrew M Schaefer (nl) Andrew M Schaefer (ast)
name	Andrew M Schaefer (en) Andrew M Schaefer (es) Andrew M Schaefer (nl) Andrew M Schaefer (ast)
Scopus author ID	wds:Q61312654-14F5EDAB-1239-43AE-9C13-A35D49AFBE77
Scopus author ID	7102001654
given name	wds:Q61312654-2669AC33-086B-43B5-BC74-9AE023803496
given name	Andrew
instance of	wds:Q61312654-D5B66865-1CC3-44CB-BDA4-A7FC91C382E3
instance of	Homo sapiens
skos:altLabel	Andrew Schaefer (en)
occupation	wds:Q61312654-D3A77F82-7458-4C28-A0A4-F354D309386E
employer	wds:Q61312654-664336E5-FA5D-477A-8CAF-CFA0CA403A98 wds:Q61312654-AA218E2F-5375-4AF8-ACC0-A08FD8562E75
sex or gender	wds:Q61312654-5B7209E7-F3FE-4A79-8154-323F7BA67C12
family name	wds:Q61312654-181c1e30-4d36-0688-e49e-5390dae2530c
occupation	researcher
employer	The Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle University
sex or gender	male
family name	Schaefer
ORCID iD	wds:Q61312654-1293E4A6-4E46-40B4-9C6B-AE39C70AFCC7
ORCID iD	https://orcid.org/0000-0001-9891-7332
ORCID iD	0000-0001-9891-7332
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q61312654
is author of	Endocrine disorders in mitochondrial disease. Prevalence and progression of diabetes in mitochondrial disease Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. The diagnosis of mitochondrial muscle disease. The epidemiology of mitochondrial disorders--past, present and future Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Disease progression in patients with single, large-scale mitochondrial DNA deletions Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Prevalence of mitochondrial DNA disease in adults Mitochondrial disease in adults: a scale to monitor progression and treatment Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions The urinary proteome and metabonome differ from normal in adults with mitochondrial disease Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease. A scale to monitor progression and treatment of mitochondrial disease in children. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Ocular motility findings in chronic progressive external ophthalmoplegia Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation The mitochondrial genome and mitochondrial muscle disorders. 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 The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Homoplasmy, heteroplasmy, and mitochondrial dystonia Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. Epilepsy in adults with mitochondrial disease: A cohort study. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Consensus-based statements for the management of mitochondrial stroke-like episodes A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease Rapid-onset, linezolid-induced lactic acidosis in MELAS Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability Clinical Reasoning: A 71-year-old woman with subacute progressive distal weakness and paresthesia after vaccination Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

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