JAMES LUPSKI to Animals, Genetically Modified
This is a "connection" page, showing publications JAMES LUPSKI has written about Animals, Genetically Modified.
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0.132
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Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet. 2018 10; 55(10):675-684.
Score: 0.036
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.033
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A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013 Jan; 34(1):191-9.
Score: 0.024
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Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 2012 May; 42(5):1661-8.
Score: 0.021
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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009 10; 10(4):275-87.
Score: 0.019