FERNANDO SCAGLIA to Mitochondrial Diseases
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Mitochondrial Diseases.
Connection Strength
10.870
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A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 Nov; 197(11):e64177.
Score: 0.828
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Intracranial calcifications simulating Aicardi-Gouti?res syndrome in PARS2-related mitochondrial disease. Am J Med Genet A. 2024 07; 194(7):e63589.
Score: 0.756
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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.
Score: 0.754
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Mitochondrial DNA maintenance defects: potential therapeutic strategies. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):40-48.
Score: 0.672
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Clinical trials in mitochondrial disorders, an update. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):1-13.
Score: 0.596
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
Score: 0.567
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Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases. Mol Genet Metab. 2018 12; 125(4):315-321.
Score: 0.519
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Mitochondrial DNA replication: clinical syndromes. Essays Biochem. 2018 07 20; 62(3):297-308.
Score: 0.511
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Therapies for mitochondrial diseases and current clinical trials. Mol Genet Metab. 2017 11; 122(3):1-9.
Score: 0.482
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Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555.
Score: 0.463
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Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184.
Score: 0.437
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Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. J Child Neurol. 2016 Feb; 31(2):215-9.
Score: 0.412
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Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr; 10(2):186-98.
Score: 0.354
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Nuclear gene defects in mitochondrial disorders. Methods Mol Biol. 2012; 837:17-34.
Score: 0.324
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Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70.
Score: 0.306
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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: 0.294
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The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev. 2010; 16(2):136-43.
Score: 0.282
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Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve. 2008 Feb; 37(2):150-71.
Score: 0.247
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Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52.
Score: 0.225
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Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025 Feb 25; 104(4):e209779.
Score: 0.201
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.196
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Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A. 2003 Dec 01; 123A(2):172-8.
Score: 0.185
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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022 06; 136(2):125-131.
Score: 0.166
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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: 0.148
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Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973.
Score: 0.139
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12).
Score: 0.119
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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701.
Score: 0.099
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Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion. 2013 Nov; 13(6):681-7.
Score: 0.091
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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
Score: 0.091
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Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33.
Score: 0.090
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Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61.
Score: 0.090
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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: 0.088
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Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab. 2010 Jun; 100(2):111-7.
Score: 0.071
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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: 0.063