Associated Papers
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_7
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.
Butler J et al.
Frontiers in Cellular Neuroscience, 2023
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 2017
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
Mody RJ et al.
Jama, 2015
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 2012
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
Braathen GJ et al.
Bmc Neurology, 2007
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Casasnovas C et al.
Clinical Genetics, 2006
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