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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.
Huang Y, Bi B, Zhao P, Yu T, Luo S, Tan L, Liu Z, Liu J, He X. Huang Y, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1846. doi: 10.1002/mgg3.1846. Epub 2021 Dec 12. Mol Genet Genomic Med. 2022. PMID: 34898052 Free PMC article.
BACKGROUND AND AIMS: Both Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. ...
BACKGROUND AND AIMS: Both Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular a …