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Lubov Blumkin

Professor

Former affiliation
20042023

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  • Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

    Genomics England Research Consortium, 2023, (Accepted/In press) In: Movement Disorders.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Van Gaalen, J., Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., De Michele, G., Minnerop, M., Ewenczyk, C., Santorelli, F. M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E., Benussi, A., & 52 othersCharles, P., Stendel, C., Romano, S., Scarlato, M., Le Ber, I., Bassi, M. T., Serrano, M., Schmitz-Hübsch, T., Doss, S., Van Velzen, G. A. J., Thomas, Q., Trabacca, A., Ortigoza-Escobar, J. D., D'Arrigo, S., Timmann, D., Pantaleoni, C., Martinuzzi, A., Besse-Pinot, E., Marsili, L., Cioffi, E., Nicita, F., Giorgetti, A., Moroni, I., Romaniello, R., Casali, C., Ponger, P., Casari, G., De Bot, S. T., Ristori, G., Blumkin, L., Borroni, B., Goizet, C., Marelli, C., Boesch, S., Anheim, M., Filla, A., Houlden, H., Bertini, E., Klopstock, T., Synofzik, M., Riant, F., Zanni, G., Magri, S., Di Bella, D., Nanetti, L., Sequeiros, J., Oliveira, J., Van de Warrenburg, B., Schöls, L., Taroni, F., Brice, A. & Durr, A., 6 Jul 2023, In: American Journal of Human Genetics. 110, 7, p. 1098-1109 12 p.

    Research output: Contribution to journal › Article › peer-review

  • Spectrum of brain malformations in fetuses with mild tubulinopathy

    Hagege, R., Krajden Haratz, K., Malinger, G., Ben-Sira, L., Leibovitz, Z., Heron, D., Burglen, L., Birnbaum, R., Valence, S., Keren, B., Blumkin, L., Jouannic, J. M., Lerman-Sagie, T. & Garel, C., Jun 2023, In: Ultrasound in Obstetrics and Gynecology. 61, 6, p. 740-748 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

    Yechieli, M., Gulsuner, S., Ben-Pazi, H., Fattal, A., Aran, A., Kuzminsky, A., Sagi, L., Guttman, D., Schneebaum Sender, N., Gross-Tsur, V., Klopstock, T., Walsh, T., Renbaum, P., Zeligson, S., Shemer Meiri, L., Lev, D., Shmueli, D., Blumkin, L., Lahad, A., King, M. C., & 2 othersLevy, E. L. & Segel, R., 1 Aug 2022, In: Journal of Medical Genetics. 59, 8, p. 759-767 9 p.

    Research output: Contribution to journal › Article › peer-review

  • Highlighting the Dystonic Phenotype Related to GNAO1

    Wirth, T., Garone, G., Kurian, M. A., Piton, A., Millan, F., Telegrafi, A., Drouot, N., Rudolf, G., Chelly, J., Marks, W., Burglen, L., Demailly, D., Coubes, P., Castro-Jimenez, M., Joriot, S., Ghoumid, J., Belin, J., Faucheux, J. M., Blumkin, L., Hull, M., & 24 othersParnes, M., Ravelli, C., Poulen, G., Calmels, N., Nemeth, A. H., Smith, M., Barnicoat, A., Ewenczyk, C., Méneret, A., Roze, E., Keren, B., Mignot, C., Beroud, C., Acosta, F., Nowak, C., Wilson, W. G., Steel, D., Capuano, A., Vidailhet, M., Lin, J. P., Tranchant, C., Cif, L., Doummar, D. & Anheim, M., Jul 2022, In: Movement Disorders. 37, 7, p. 1547-1554 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 66 Research outputs