FERNANDO SCAGLIA to Mitochondria
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Mitochondria.
Connection Strength
2.846
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Clinical trials in mitochondrial disorders, an update. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):1-13.
Score: 0.493
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Therapies for mitochondrial diseases and current clinical trials. Mol Genet Metab. 2017 11; 122(3):1-9.
Score: 0.399
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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):4-12.
Score: 0.341
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Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar; 48:85-91.
Score: 0.309
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Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab. 2012 Nov; 107(3):247-52.
Score: 0.278
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Mitochondrial DNA maintenance defects: potential therapeutic strategies. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):40-48.
Score: 0.139
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Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64.
Score: 0.118
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Mitochondrial DNA replication: clinical syndromes. Essays Biochem. 2018 07 20; 62(3):297-308.
Score: 0.106
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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am J Hum Genet. 2017 Nov 02; 101(5):833-843.
Score: 0.101
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Mitochondrial cytopathies. Cell Calcium. 2016 09; 60(3):199-206.
Score: 0.090
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.090
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Disorders of carnitine biosynthesis and transport. Mol Genet Metab. 2015 Nov; 116(3):107-12.
Score: 0.087
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Nuclear gene defects in mitochondrial disorders. Methods Mol Biol. 2012; 837:17-34.
Score: 0.067
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Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol. 2005 Nov; 25(22):10190-201.
Score: 0.044
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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant. Mov Disord Clin Pract. 2024 Jun; 11(6):708-715.
Score: 0.039
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153.
Score: 0.031
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Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431.
Score: 0.031
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Score: 0.028
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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017 12 15; 26(24):4937-4950.
Score: 0.025
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Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93.
Score: 0.018
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M?nage-?-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1. Cell Metab. 2007 Feb; 5(2):129-42.
Score: 0.012