Browse by all authors Browse By Author Name - Lehesjoki,+A.+E.

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Berkovic, S. F., Corbett, M. A., Schwake, M., Bahlo, M., Dibbens, L. M., Lin, M., Gandolfo, L., Vears, D., O'Sullivan, J., Robertson, T., Bayly, M. A., Gardner, A. E., Vlaar, A. M., Korenke, G. C., Bloem, B. R., de Coo, I. F., Verhagen, J. M. A, Lehesjoki, A. E., Saftig, P. and Gecz, J. (2011). A New Form of Progressive Myoclonus Epilepsy with Early Ataxia and Scoliosis Due to Mutation in the Golgi Protein Gosr2. In: Epilepsia. 29th International Epilepsy Congress, Rome Italy, (94-95). Aug 28-Sep 01, 2011. 85   0
Rubboli, G., Franceschetti, S., Canafoglia, L., Gambardella, A., Riguzzi, P., Dibbens, L. M., Andermann, F., Bayly, M. A., Joensuu, T., Vears, D. F., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Pasini, E., Lehesjoki, A. E., Berkovic, S. F. and Michelucci, R (2010). CLINICAL AND NEUROPHYSIOLOGICAL FEATURES OF PROGRESSIVE MYOCLONUS EPILEPSY ( PME) ASSOCIATED WITH SCARB2 MUTATIONS WITHOUT RENAL FAILURE. In: EPILEPSIA. 9th European Congress on Epileptology, Rhodes GREECE, (23-23). JUN 27-JUL 01, 2010. 40   0
Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F, Franceschetti, S., Canafoglia, L, Wallace, Robyn H., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki, A. E. and Berkovic, S. F. (2009) SCARB2 mutations in progressive Myoclonus Epilepsy (PME) without renal failure. Annals of Neurology, 66 4: 532-536. doi:10.1002/ana.21765 41   38 Cited 42 times in Scopus42 0
Hämäläinen, R. H., Mowat, D., Gabbett, M. T., O'Brien, T. A., Kallijärvi, J. and Lehesjoki, A. E. (2006) Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. Clinical Genetics, 70 6: 473-479. doi:10.1111/j.1399-0004.2006.00700.x 49   6 Cited 8 times in Scopus8 3