Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
about
The rise of mitochondria in medicineGenetic 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 EnglandResources, challenges and way forward in rare mitochondrial diseases researchA neurodegenerative perspective on mitochondrial optic neuropathiesGenetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum DisorderExpanded 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 injuryShort-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 stressMitochondrial disease: genetics and management.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckAttitudes 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 DNASudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adultsA 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.
P2860
Q26740014-3A127199-5091-4F53-80E8-BB75D3F06C7FQ26752831-5FAEB661-FB27-4DBA-BFC8-065D6BDA24ECQ26776417-A2AF5856-DE9E-4F8D-89A4-6BC34E37482AQ26784050-8CF32AC8-5C9C-4901-9285-DE08B91E99AEQ26800675-5BCA3489-86E2-41FD-8781-AD35B171F013Q28072026-F9267976-7BAB-4D7E-A019-C460545A8931Q28553061-2186C836-BBC1-4D3B-B5E3-135958A6E894Q31060952-BE8BE6B8-1E91-4F30-B12B-E44ED71FF9CFQ31165571-BB7779BE-F5C9-45F5-8C40-6C0DF5AE0C5BQ33691343-6BADF39A-BBEC-4FF9-B0DA-A9B05E6FC5CBQ33693717-1EA49980-96B7-4BC3-B757-C599A807E02AQ33737837-948745ED-83E4-4E5A-8D04-2D09AE0C6851Q33793389-71C1B451-94FA-4667-9CFE-34657FA59D10Q34529641-4045E06F-4753-4015-AA6C-AF1175E379ECQ35829584-DD4EA726-8D27-4AC0-92E3-89AF10331F16Q35847813-E5A35139-F9AE-457D-A8F7-6B19FE2DB42BQ36164488-E7E07CE2-F419-41E9-8DDF-B1DCE45A0408Q36277419-3B00CA0F-8224-4C10-8A76-6C629D48E92BQ36282442-C88A13BC-BE03-4348-B1E1-72764A594E12Q36305492-2275B73C-3DE2-4E62-8B73-D80B0AD46681Q36311088-53247B42-E0BF-491C-9F3E-70EE2E639EB3Q36311644-A8A18C21-8187-4744-8969-4D79F67EC913Q36354896-0FFE03E8-938B-496F-A0D7-59C825A54D99Q36492283-0D8BC126-BD0E-42AF-9073-3258AEC74561Q36581411-05F9A3D9-8AED-4F40-8733-2C94FEB242EDQ36823140-17A5EC1F-0FDA-4986-871B-49E59AF48D39Q36882394-36F5E712-74ED-4653-AC5D-88AEDC16207CQ36894373-51A45044-D8D7-4E85-9A83-850FDEE51DD9Q37185443-F9C127C6-BACD-4071-849F-391B89CE94BBQ37225729-29116BC1-CD36-4D4F-BFF4-AFCC9A38A89CQ37235772-0F36A332-4DAD-4FCB-90AD-150760A36D5BQ37343266-27BCBDBA-F6E2-4E13-B778-FBCBF9EFE32FQ37560946-AB6082FF-7524-4389-A0FD-AC21E28A7D5AQ37561288-A7C8E42A-6963-4508-9DCE-9A98BDFB1285Q37589775-A6D3C706-2B6E-4609-9995-0508215D4D19Q37615347-5A181C8D-2F15-41F0-A5C2-C69B64D81D34Q38338320-2531F9D3-FEB3-43F4-B595-80892E3CE556Q38401402-DE4665C6-91F3-4554-AAA4-04D763C265E8Q38592664-12FBF6BD-A72E-471E-9B0E-26EFF5904599Q38653585-43FF327D-CEB3-4747-AAAA-7CBE1537A956
P2860
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@ast
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@en
type
label
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@ast
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@en
prefLabel
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@ast
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@en
P2093
P2860
P50
P356
P1433
P1476
Prevalence of nuclear and mito ...... o adult mitochondrial disease.
@en
P2093
Andrew M Schaefer
Catherine Feeney
Douglass M Turnbull
Nicholas Gomez
Robert McFarland
Robert W Taylor
P2860
P304
P356
10.1002/ANA.24362
P50
P577
2015-03-28T00:00:00Z