Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q36532577

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The rise of mitochondria in medicine Genetic manipulation for inherited neurodegenerative diseases: myth or reality?Mitochondrial disease in adults: what's old and what's new?Prevalence of neurogenetic disorders in the North of England Resources, challenges and way forward in rare mitochondrial diseases research A neurodegenerative perspective on mitochondrial optic neuropathies Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease.Quantification of gait in mitochondrial m.3243A > G patients: a validation study.Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome.Mitochondrial dysfunction in inherited renal disease and acute kidney injury Short-term serum deprivation causes no significant mitochondrial DNA mutation in vascular smooth muscle cells revealed by a new next generation sequencing technology.A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Potential compounds for the treatment of mitochondrial disease.A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory, and transcriptional responses to acute psychological stress Mitochondrial disease: genetics and management.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.Hypoxia as a therapy for mitochondrial disease.Modifying the Mitochondrial Genome.Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.The genetics and pathology of mitochondrial disease.Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Identification of miRNA, lncRNA and mRNA-associated ceRNA networks and potential biomarker for MELAS with mitochondrial DNA A3243G mutation.Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome.Hospitalizations for mitochondrial disease across the lifespan in the U.S.Mutations causing mitochondrial disease: What is new and what challenges remain?Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.

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

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Prevalence of nuclear and mito ...... o adult mitochondrial disease.

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Prevalence of nuclear and mito ...... o adult mitochondrial disease.

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Prevalence of nuclear and mito ...... o adult mitochondrial disease.

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Annals of Neurology

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Prevalence of nuclear and mito ...... o adult mitochondrial disease.

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Andrew M Schaefer

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Catherine Feeney

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Douglass M Turnbull

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Nicholas Gomez

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Robert McFarland

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Robert W Taylor

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P2860

The epidemiology of Leber hereditary optic neuropathy in the North East of England

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

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Prevalence of mitochondrial DNA disease in adults.

Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

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753-759

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10.1002/ANA.24362

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5

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77

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Patrick Yu-Wai-Man

Charlotte L Alston

Gráinne S. Gorman

Patrick F. Chinnery

Emma L. Blakely

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2015-03-28T00:00:00Z

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272073783

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25652200

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mitochondrial DNA

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4737121

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