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The in-depth evaluation of suspected mitochondrial disease

The in-depth evaluation of suspected mitochondrial disease

http://www.wikidata.org/entity/Q33608204

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Biomarkers in autism Mitochondrial dysfunction and mitophagy activation in blood mononuclear cells of fibromyalgia patients: implications in the pathogenesis of the disease Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis Mitochondrial Cardiomyopathies Mitochondrial disease in childhood: nuclear encoded Sleep disorders associated with primary mitochondrial diseases Compromised mitochondrial fatty acid synthesis in transgenic mice results in defective protein lipoylation and energy disequilibrium Biochemical diagnosis of mitochondrial disorders Mitochondrial disease in autism spectrum disorder patients: a cohort analysis Stimulated human mast cells secrete mitochondrial components that have autocrine and paracrine inflammatory actions Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome.Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline Mitochondrial DNA and anti-mitochondrial antibodies in serum of autistic children AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders Barth syndrome mutations that cause tafazzin complex lability.A modern approach to the treatment of mitochondrial disease Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.The mitochondrial death pathway: a promising therapeutic target in diseases Visualization of mitochondrial respiratory function using cytochrome c oxidase/succinate dehydrogenase (COX/SDH) double-labeling histochemistry.High-fat diet and FGF21 cooperatively promote aerobic thermogenesis in mtDNA mutator mice.Mitochondrial Dysfunction Plus High-Sugar Diet Provokes a Metabolic Crisis That Inhibits Growth GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.Human mast cell degranulation and preformed TNF secretion require mitochondrial translocation to exocytosis sites: relevance to atopic dermatitis.Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice Mitochondrial and ion channel gene alterations in autism.A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants.Mitochondria-Fundamental to Life and Health.Intrinsic aerobic capacity correlates with greater inherent mitochondrial oxidative and H2O2 emission capacities without major shifts in myosin heavy chain isoform

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The in-depth evaluation of suspected mitochondrial disease

http://www.wikidata.org/entity/Q33608204

description

2008 nî lūn-bûn

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2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2008 թվականի փետրվարին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

The in-depth evaluation of suspected mitochondrial disease

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The in-depth evaluation of suspected mitochondrial disease

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The in-depth evaluation of suspected mitochondrial disease

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The in-depth evaluation of suspected mitochondrial disease

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The in-depth evaluation of suspected mitochondrial disease

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The in-depth evaluation of suspected mitochondrial disease

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J.YMGME.2007.11.018

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Molecular Genetics and Metabolism

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The in-depth evaluation of suspected mitochondrial disease

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Bruce H Cohen

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Lee-Jun Wong

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Mitochondrial Medicine Society's Committee on Diagnosis

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Niklas Darin

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Richard H Haas

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Robert K Naviaux

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Russell P Saneto

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Sumit Parikh

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Clinical and Experimental Applications of NIR-LED Photobiomodulation

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

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16-37

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10.1016/J.YMGME.2007.11.018

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1

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94

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2008-02-01T00:00:00Z

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5609222

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18243024

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