Boczonadi, V., Müller, J.S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., Cinnamon, Y., Lützkendorf, S., Piko, H., Reza, M., Florez, L., Santibanez-Koref, M., Griffin, H., Schuelke, M., Elpeleg, O., Kalaydjieva, L., Lochmüller, H., Elliott, D.J., Chinnery, P.F., Edvardson, S., Horvath, R. (2014) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature communications. 5:4287

Boczonadi, V., Müller, J.S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., Cinnamon, Y., Lützkendorf, S., Piko, H., Reza, M., Florez, L., Santibanez-Koref, M., Griffin, H., Schuelke, M., Elpeleg, O., Kalaydjieva, L., Lochmüller, H., Elliott, D.J., Chinnery, P.F., Edvardson, S., Horvath, R. (2014) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature communications. 5:4287