Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 2
Results: 20
Editorial: Mitochondrial medicine special issue.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 289, doi. 10.1002/jimd.12374
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CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 450, doi. 10.1002/jimd.12361
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The nucleotide prodrug CERC‐913 improves mtDNA content in primary hepatocytes from DGUOK‐deficient rats.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 492, doi. 10.1002/jimd.12354
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Regulatory environment for novel therapeutic development in mitochondrial diseases.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 292, doi. 10.1002/jimd.12353
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The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 367, doi. 10.1002/jimd.12345
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Developing new treatments in partnership for primary mitochondrial disease: What does industry need from academics, and what do academics need from industry?
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 301, doi. 10.1002/jimd.12326
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Current progress with mammalian models of mitochondrial DNA disease.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 325, doi. 10.1002/jimd.12324
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Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 343, doi. 10.1002/jimd.12320
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The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 312, doi. 10.1002/jimd.12319
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A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 358, doi. 10.1002/jimd.12317
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The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 481, doi. 10.1002/jimd.12310
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Issue Information.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 1, doi. 10.1002/jimd.12257
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- Article
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 388, doi. 10.1002/jimd.12248
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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314
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The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 426, doi. 10.1002/jimd.12312
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Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 469, doi. 10.1002/jimd.12307
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 376, doi. 10.1002/jimd.12300
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Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 438, doi. 10.1002/jimd.12296
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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288
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Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 502, doi. 10.1002/jimd.12285
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