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Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Hum Mol Genet. 2023 Apr 6;32(8):1276-1288. doi: 10.1093/hmg/ddac283.
Hum Mol Genet. 2023.
PMID: 36413117
Free PMC article.
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE, Lorson MA, Ricardez Hernandez SM, Al Rawi Z, Mao J, Marquez J, Villalón E, Keilholz AN, Smith CL, Garro-Kacher MO, Morcos T, Davis DJ, Bryda EC, Nichols NL, Lorson CL.
Smith CE, et al.
Hum Mol Genet. 2022 Apr 22;31(8):1293-1307. doi: 10.1093/hmg/ddab317.
Hum Mol Genet. 2022.
PMID: 34726235
Free PMC article.
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