Search Results - "Tournev, Ivajlo"

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 by Züchner, Stephan, De Jonghe, Peter, Jordanova, Albena, Claeys, Kristl G., Guergueltcheva, Velina, Cherninkova, Sylvia, Hamilton, Steven R., Van Stavern, Greg, Krajewski, Karen M., Stajich, Jeffery, Tournev, Ivajlo, Verhoeven, Kristien, Langerhorst, Christine T., de Visser, Marianne, Baas, Frank, Bird, Thomas, Timmerman, Vincent, Shy, Michael, Vance, Jeffery M.

“…Objective Charcot‐Marie‐Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type…”
Get full text

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 by Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent

“…Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened…”
Get full text