| 1 | CMTDIE, INF2 |
| Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. | |
| Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J. | |
| J Peripher Nerv Syst 20(1):52-9. doi: 10.1111/jns.12106. 2015 | |
| 2 | CMTDIE, INF2 |
| Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy. | |
| Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM. | |
| J Neuropathol Exp Neurol 73(3):223-33. doi: 10.1097/NEN.0000000000000047. 2014 | |
| 3 | CMTDIE, FSGS5, INF2 |
| Mutations to the formin homology 2 domain of INF2 protein have unexpected effects on actin polymerization and severing. | |
| Ramabhadran V, Gurel PS, Higgs HN. | |
| J Biol Chem 287(41):34234-45. doi: 10.1074/jbc.M112.365122. Epub 2012 Aug 9. 2012 | |
| 4 | CMTDIE, INF2 |
| INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. | |
| Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G. | |
| N Engl J Med 365(25):2377-88. doi: 10.1056/NEJMoa1109122. 2011 | |