FERNANDO SCAGLIA to Mitochondrial Proteins
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Mitochondrial Proteins.
Connection Strength
2.355
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Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases. Mol Genet Metab. 2018 12; 125(4):315-321.
Score: 0.548
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Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555.
Score: 0.489
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Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):282-5.
Score: 0.310
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Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372.
Score: 0.185
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153.
Score: 0.160
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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 06; 179(6):1015-1019.
Score: 0.141
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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: 0.128
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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: 0.114
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Nuclear gene defects in mitochondrial disorders. Methods Mol Biol. 2012; 837:17-34.
Score: 0.086
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Citrin deficiency, a perplexing global disorder. Mol Genet Metab. 2009 Jan; 96(1):44-9.
Score: 0.069
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genet Med. 2023 06; 25(6):100314.
Score: 0.045
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The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
Score: 0.033
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.031
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Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem. 2008 Jul; 54(7):1141-8.
Score: 0.017