Connection

Emil Alexov to Mental Retardation, X-Linked

This is a "connection" page, showing publications Emil Alexov has written about Mental Retardation, X-Linked.
Connection Strength

2.476
  1. Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. Int J Mol Sci. 2016 Jan 08; 17(1).
    View in: PubMed
    Score: 0.499
  2. Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease. Int J Mol Sci. 2015 Nov 13; 16(11):27270-87.
    View in: PubMed
    Score: 0.494
  3. A rational free energy-based approach to understanding and targeting disease-causing missense mutations. J Am Med Inform Assoc. 2013 Jul-Aug; 20(4):643-51.
    View in: PubMed
    Score: 0.408
  4. In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. PLoS One. 2011; 6(5):e20373.
    View in: PubMed
    Score: 0.362
  5. Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
    View in: PubMed
    Score: 0.171
  6. Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. J Biol Chem. 2017 05 26; 292(21):8948-8963.
    View in: PubMed
    Score: 0.135
  7. Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach. PLoS One. 2014; 9(10):e110884.
    View in: PubMed
    Score: 0.115
  8. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15; 22(18):3789-97.
    View in: PubMed
    Score: 0.104
  9. Enhancing human spermine synthase activity by engineered mutations. PLoS Comput Biol. 2013; 9(2):e1002924.
    View in: PubMed
    Score: 0.102
  10. Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum Mutat. 2010 Sep; 31(9):1043-9.
    View in: PubMed
    Score: 0.086
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.