Title: | Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy |
Journal : | The Journal of clinical investigation, 130, 3 |
Authors: | Sullivan JM ; Motley WW ; Johnson JO ; Aisenberg WH ; Marshall KL ; Barwick KE ; Kong L ; Huh JS ; Saavedra-Rivera PC ; McEntagart MM ; Marion MH ; Hicklin LA ; Modarres H ; Baple EL ; Farah MH ; Zuberi AR ; Lutz CM ; Gaudet R ; Traynor BJ ; Crosby AH ; Sumner CJ |
Material Type: | Article |
Publisher: | United States, 03/2020 |
Size: | p 1506 |
Languages: | English |
Keywords : | axonal forms of CMT ; case studies ; Charcot-Marie-Tooth disease ; family ; genotype-phenotype correlation ; physiopathology ; therapeutical research |
Keywords: | genetic diseases;genetics;neurodegeneration;neuromuscular disease;neuroscience; |
Pubmed / DOI : | Pubmed : 32065591 / DOI : 10.1172/JCI128152 |
N° Profil MNM : | 2020022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32065591 |