Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

द्वारा Polke, J.M., Laurá, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V.S., Houlden, H., Chamley, S.C., Blake, J., DeVile, C., Sandford, R., Sweeney, M.G., Davis, M.B., Reilly, M.M.
प्रकाशित 2011

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

द्वारा Davidson, G. L., Murphy, S. M., Polke, J. M., Laura, M., Salih, M. A. M., Muntoni, F., Blake, J., Brandner, S., Davies, N., Horvath, R., Price, S., Donaghy, M., Roberts, M., Foulds, N., Ramdharry, G., Soler, D., Lunn, M. P., Manji, H., Davis, M. B., Houlden, H., Reilly, M. M.
प्रकाशित 2012

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

द्वारा Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., Mead, S.
में प्रकाशित Mol Psychiatry (2018)