Articles dans des revues avec comité de lecture (263)
  1. 73. Pandolfo, M. (2013). Pediatric epilepsy genetics. Current opinion in neurology, 26(2), 137-145. doi:10.1097/WCO.0b013e32835f19da
  2. 74. Reetz, K., Costa, A. S., Mirzazade, S., Lehmann, A., Juzek, A., Rakowicz, M., Boguslawska, R., Schöls, L., Linnemann, C., Mariotti, C., Grisoli, M., Dürr, A., van de Warrenburg, B. P., Timmann, D., Pandolfo, M., Bauer, P., Jacobi, H., Hauser, T.-K., Klockgether, T., Schulz, J. B., & axia Study Group Investigators, (2013). Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain, 136(Pt 3), 905-917. doi:10.1093/brain/aws369
  3. 75. Dibbens, L. M., De Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., Crompton, D. E., Hughes, J. N., Bellows, S. T., Klein, K. M., Callenbach, P. M., Corbett, M. A., Gardner, A. E., Kivity, S., Iona, X., Regan, B. M., Weller, C. M., Crimmins, D., O'Brien, T. J., Guerrero-López, R., Mulley, J. C., Dubeau, F., Licchetta, L., Bisulli, F., Cossette, P., Thomas, P. Q., Gecz, J., Serratosa, J. M., Brouwer, O., Andermann, F., Andermann, E., Van den Maagdenberg, A. M., Pandolfo, M., Berkovic, S. F., & Scheffer, I. E. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature genetics. doi:10.1038/ng.2599
  4. 76. Lynch, D. R., Pandolfo, M., Schulz, J. B., Perlman, S. L., Delatycki, M. B., Payne, R. M., Shaddy, R., Fischbeck, K. H., Farmer, J., Kantor, P., Raman, S. V., Hunegs, L., Odenkirchen, J., Miller, K., & Kaufmann, P. (2013). Common data elements for clinical research in Friedreich's ataxia. Movement disorders, 28(2), 190-195. doi:10.1002/mds.25201
  5. 77. Pandolfo, M. (2013). Treatment of Friedreich's ataxia. Expert Opinion on Orphan Drugs, 1(3), 221-234. doi:10.1517/21678707.2013.771578
  6. 78. Kasperavičiūtė, D., Pandolfo, M., Depondt, C., et al. (2013). Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain, 136, 2040-2050. doi:10.1093/brain/awt233
  7. 79. Fonteyn, E. M. R., Schmitz-Hübsch, T., Verstappen, C. C. P., Baliko, L., Bloem, B. R., Boesch, S., Bunn, L., Giunti, P., Globas, C., Klockgether, T., Melegh, B., Pandolfo, M., Schöls, L., Timmann, D., & van de Warrenburg, B. P. C. (2013). Prospective analysis of falls in dominant ataxias. European neurology, 69(1), 53-57. doi:10.1159/000342907
  8. 80. Hick, A., Wattenhofer-Donzé, M., Chintawar, S., Tropel, P., Simard, J. P., Vaucamps, N., Gall, D., Lambot, L., André, C., Reutenauer, L., Rai, M., Teletin, M., Messaddeq, N., Schiffmann, S. N., Viville, S., Pearson, C. E., Pandolfo, M., & Puccio, H. (2013). Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia. Disease Models and Mechanisms, 6(3), 608-621. doi:10.1242/dmm.010900
  9. 81. Hitomi, Y., Heinzen, E. L., Donatello, S., Dahl, H.-H., Damiano, J. A., McMahon, J. M., Berkovic, S. F., Scheffer, I. E., Legros, B., Rai, M., Weckhuysen, S., Suls, A., de Jonghe, P., Pandolfo, M., Goldstein, D. B., Van Bogaert, P., & Depondt, C. (2013). Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy. Annals of neurology, 74(3), 496-501. doi:10.1002/ana.23934
  10. 82. Metzger, S., Pandolfo, M., et al. (2013). The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients. PloS one, 8(7), e68951. doi:10.1371/journal.pone.0068951
  11. 83. Pandolfo, M. (2012). Friedreich ataxia: new pathways. Journal of child neurology, 27(9), 1204-1211. doi:10.1177/0883073812448534
  12. 84. Pandolfo, M., Depondt, C., & Huppke, P. (2012). Periventricular heterotopia: Identifying homogeneity among heterogeneity. Neurology. doi:10.1212/WNL.0b013e31826aad7d
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