Connection

STEVEN SCHERER to Child

This is a "connection" page, showing publications STEVEN SCHERER has written about Child.
Connection Strength

0.181
  1. A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol. 2009 Dec; 66(6):759-70.
    View in: PubMed
    Score: 0.020
  2. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 07; 148(1):238-251.
    View in: PubMed
    Score: 0.014
  3. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025 Jan 07; 148(1):227-237.
    View in: PubMed
    Score: 0.014
  4. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. J Peripher Nerv Syst. 2024 Jun; 29(2):202-212.
    View in: PubMed
    Score: 0.014
  5. Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.
    View in: PubMed
    Score: 0.012
  6. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2020 12 01; 143(12):3589-3602.
    View in: PubMed
    Score: 0.011
  7. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 03 03; 94(9):e884-e896.
    View in: PubMed
    Score: 0.010
  8. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 03; 85(3):316-330.
    View in: PubMed
    Score: 0.010
  9. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 03 01; 102(3):505-514.
    View in: PubMed
    Score: 0.009
  10. Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29; 89(9):927-935.
    View in: PubMed
    Score: 0.009
  11. Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve. 2018 02; 57(2):255-259.
    View in: PubMed
    Score: 0.009
  12. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
    View in: PubMed
    Score: 0.008
  13. The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.
    View in: PubMed
    Score: 0.008
  14. Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 05 10; 86(19):1762-71.
    View in: PubMed
    Score: 0.008
  15. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain. 2015 Nov; 138(Pt 11):3180-92.
    View in: PubMed
    Score: 0.007
  16. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan; 137(Pt 1):44-56.
    View in: PubMed
    Score: 0.007
  17. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010 Feb 09; 55(6):587-97.
    View in: PubMed
    Score: 0.005
  18. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64.
    View in: PubMed
    Score: 0.004
  19. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jul 01; 107(25):3184-90.
    View in: PubMed
    Score: 0.003
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.