Molecular genetic testing for mitochondrial disease: from one generation to the next
about
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMitochondrial geneticsMitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesAutism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report.Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossAGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Whole exome sequencing of suspected mitochondrial patients in clinical practice.A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interestFrom case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeIn vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.Next-generation sequencing for mitochondrial disordersHospitalizations for mitochondrial disease across the lifespan in the U.S.Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.Mitochondrial Mutations in Cardiac Disorders.Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms.High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans.ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.Approach, Application, and Bioethics of mtDNA Sequencing in Cancer.Endocrine Disorders in Primary Mitochondrial Disease.Mitochondrial disease patient motivations and barriers to participate in clinical trials.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseMitochondrial Genomics: A complex field now coming of age
P2860
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P2860
Molecular genetic testing for mitochondrial disease: from one generation to the next
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Molecular genetic testing for mitochondrial disease: from one generation to the next
@ast
Molecular genetic testing for mitochondrial disease: from one generation to the next
@en
type
label
Molecular genetic testing for mitochondrial disease: from one generation to the next
@ast
Molecular genetic testing for mitochondrial disease: from one generation to the next
@en
prefLabel
Molecular genetic testing for mitochondrial disease: from one generation to the next
@ast
Molecular genetic testing for mitochondrial disease: from one generation to the next
@en
P2860
P1433
P1476
Molecular genetic testing for mitochondrial disease: from one generation to the next
@en
P2093
Elizabeth McCormick
Emily Place
P2860
P2888
P304
P356
10.1007/S13311-012-0174-1
P50
P577
2013-04-01T00:00:00Z