FERNANDO SCAGLIA to Animals
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Animals.
Connection Strength
0.240
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Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases. Mol Genet Metab. 2018 12; 125(4):315-321.
Score: 0.028
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Therapies for mitochondrial diseases and current clinical trials. Mol Genet Metab. 2017 11; 122(3):1-9.
Score: 0.026
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Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555.
Score: 0.025
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Mitochondrial cytopathies. Cell Calcium. 2016 09; 60(3):199-206.
Score: 0.023
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Disorders of carnitine biosynthesis and transport. Mol Genet Metab. 2015 Nov; 116(3):107-12.
Score: 0.022
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Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet. 2012 May; 55(5):299-306.
Score: 0.018
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GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug; 94(4):391-396.
Score: 0.013
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Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet. 2006 May 15; 142C(2):113-20.
Score: 0.012
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Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 10; 134(10 Suppl):2775S-2782S; discussion 2796S-2797S.
Score: 0.010
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NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
Score: 0.009
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
Score: 0.007
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Palaeoproteomics resolves sloth relationships. Nat Ecol Evol. 2019 07; 3(7):1121-1130.
Score: 0.007
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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925.
Score: 0.007
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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: 0.007
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A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonica. Nat Commun. 2017 06 27; 8:15951.
Score: 0.006
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
Score: 0.006
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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: 0.006
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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: 0.003
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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: 0.003
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Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. EMBO J. 2004 Sep 01; 23(17):3559-69.
Score: 0.003