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Rachel Straussberg

Professor

1988 …2025

Research activity per year

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  • Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

    Zhu, G., Didry-Barca, B., Seabra, L., Rice, G. I., Uggenti, C., Touimy, M., Rodero, M. P., Trapero, R. H., Bondet, V., Duffy, D., Gautier, P., Livingstone, K., Sutherland, F. J. H., Lebon, P., Parisot, M., Bole-Feysot, C., Masson, C., Cagnard, N., Nitschké, P. & Anderson, G. & 30 others, Assmann, B., Barth, M., Boespflug-Tanguy, O., D'Arco, F., Dorboz, I., Giese, T., Hacohen, Y., Hancarova, M., Husson, M., Lepine, A., Lim, M., Mancardi, M. M., Melki, I., Neubauer, D., Sa, M., Sedlacek, Z., Seitz, A., Rottman, M. S., Sanquer, S., Straussberg, R., Vlčková, M., Villéga, F., Wagner, M., Zerem, A., Marsh, J. A., Frémond, M. L., Kaliakatsos, M., Crow, Y. J., El-Daher, M. T. & Lepelley, A., Mar 2025, In: The Lancet Neurology. 24, 3, p. 218-229 12 p.

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

    Open Access
    5 Scopus citations

  • Neurologic complications of thiamine (B1) deficiency following bariatric surgery in adolescents

    Cohen Vig, L., Straussberg, R., Ziv, N., Hirschfeld-Dicker, L., Konen, O. & Aharoni, S., May 2024, In: European Journal of Paediatric Neurology. 50, p. 74-80 7 p.

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

    1 Scopus citations

  • BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

    Engel, C., Valence, S., Delplancq, G., Maroofian, R., Accogli, A., Agolini, E., Alkuraya, F. S., Baglioni, V., Bagnasco, I., Becmeur-Lefebvre, M., Bertini, E., Borggraefe, I., Brischoux-Boucher, E., Bruel, A. L., Brusco, A., Bubshait, D. K., Cabrol, C., Cilio, M. R., Cornet, M. C. & Coubes, C. & 70 others, Danhaive, O., Delague, V., Denommé-Pichon, A. S., Di Giacomo, M. C., Doco-Fenzy, M., Engels, H., Cremer, K., Gérard, M., Gleeson, J. G., Heron, D., Goffeney, J., Guimier, A., Harms, F. L., Houlden, H., Iacomino, M., Kaiyrzhanov, R., Kamien, B., Karimiani, E. G., Kraus, D., Kuentz, P., Kutsche, K., Lederer, D., Massingham, L., Mignot, C., Morris-Rosendahl, D., Nagarajan, L., Odent, S., Ormières, C., Partlow, J. N., Pasquier, L., Penney, L., Philippe, C., Piccolo, G., Poulton, C., Putoux, A., Rio, M., Rougeot, C., Salpietro, V., Scheffer, I., Schneider, A., Srivastava, S., Straussberg, R., Striano, P., Valente, E. M., Venot, P., Villard, L., Vitobello, A., Wagner, J., Wagner, M., Zaki, M. S., Zara, F., Lesca, G., Yassaee, V. R., Miryounesi, M., Hashemi-Gorji, F., Beiraghi, M., Ashrafzadeh, F., Galehdari, H., Walsh, C., Novelli, A., Tacke, M., Sadykova, D., Maidyrov, Y., Koneev, K., Shashkin, C., Capra, V., Zamani, M., Van Maldergem, L., Burglen, L. & Piard, J., Sep 2023, In: European Journal of Human Genetics. 31, 9, p. 1023-1031 9 p.

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

    Open Access
    10 Scopus citations

  • Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

    Avital, D., Peretz, S., Perlow, E., Konen, O., Inbar, E., Bulkowstein, Y., Nahum, E., Aharoni, S., Vig, L. C., Nevo, Y., Auriel, E. & Straussberg, R., Sep 2022, In: European Journal of Paediatric Neurology. 40, p. 40-43 4 p.

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

    Open Access
    1 Scopus citations

  • Infant Botulism, Israel, 2007–2021

    Goldberg, B., Danino, D., Levinsky, Y., Levy, I., Straussberg, R., Dabaja-Younis, H., Guri, A., Almagor, Y., Tasher, D., Elad, D., Baider, Z., Blum, S. & Scheuerman, O., Feb 2022, In: Emerging Infectious Diseases. 29, 2, p. 235-241 7 p.

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

    Open Access
    22 Scopus citations
View all 163 Research outputs