Connection

Co-Authors

This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and WILLIAM CRAIGEN.
Connection Strength

1.471
  1. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis. 2017 06; 1863(6):1539-1555.
    View in: PubMed
    Score: 0.145
  2. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016 Apr; 117(4):407-12.
    View in: PubMed
    Score: 0.135
  3. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014 Sep; 18:63-9.
    View in: PubMed
    Score: 0.122
  4. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014 Mar; 48:85-91.
    View in: PubMed
    Score: 0.117
  5. The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene. 2013 Dec; 1:8-14.
    View in: PubMed
    Score: 0.115
  6. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
    View in: PubMed
    Score: 0.114
  7. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab. 2012 Nov; 107(3):247-52.
    View in: PubMed
    Score: 0.105
  8. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14.
    View in: PubMed
    Score: 0.102
  9. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70.
    View in: PubMed
    Score: 0.096
  10. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab. 2010 Jun; 100(2):111-7.
    View in: PubMed
    Score: 0.090
  11. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
    View in: PubMed
    Score: 0.062
  12. Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443.
    View in: PubMed
    Score: 0.044
  13. Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
    View in: PubMed
    Score: 0.041
  14. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
    View in: PubMed
    Score: 0.038
  15. Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
    View in: PubMed
    Score: 0.037
  16. 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.
    View in: PubMed
    Score: 0.028
  17. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93.
    View in: PubMed
    Score: 0.028
  18. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29(2):330-1.
    View in: PubMed
    Score: 0.019
  19. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
    View in: PubMed
    Score: 0.018
  20. Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. EMBO J. 2004 Sep 01; 23(17):3559-69.
    View in: PubMed
    Score: 0.015
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.