Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias von Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Gaalen, J. van, Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., Michele, G. de, Minnerop, M., Ewenczyk, C., Santorelli, F.M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E., Benussi, A., Charles, P., Stendel, C., Romano, S., Scarlato, M., Ber, I. le, Bassi, M.T., Serrano, M., Schmitz-Hübsch, T., Doss, S., Velzen, G.A.J. van, 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., Bot, S.T. de, 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., Bella, D. di, Nanetti, L., Sequeiros, J., Oliveira, J., Warrenburg, B.V., Schoels, L., Taroni, F., Brice, A., Durr, A.

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Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions von Raman, Rohini, Allen, Scott P, Goodall, Emily F, Kramer, Shelley, Ponger, Lize-Linde, Heath, Paul R., Milo, Marta, Hollinger, Hannah C., Walsh, Theresa, Highley, J Robin, Olpin, Simon, McDermott, Christopher J., Shaw, Pamela J., Kirby, Janine

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Altered gene expression in human placentas after IVF/ICSI von Nelissen, Ewka C.M., Dumoulin, John C.M., Busato, Florence, Ponger, Loïc, Eijssen, Lars M., Evers, Johannes L.H., Tost, Jörg, van Montfoort, Aafke P.A.

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Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder von Lossos, Alexander, Elazar, Nimrod, Lerer, Israela, Schueler-Furman, Ora, Fellig, Yakov, Glick, Benjamin, Zimmerman, Bat-El, Azulay, Haim, Dotan, Shlomo, Goldberg, Sharon, Gomori, John M, Ponger, Penina, Newman, J P, Marreed, Hodaifah, Steck, Andreas J, Schaeren-Wiemers, Nicole, Mor, Nofar, Harel, Michal, Geiger, Tamar, Eshed-Eisenbach, Yael, Meiner, Vardiella, Peles, Elior

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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Comparative transcriptomics reveal a novel tardigrade specific DNA binding protein induced in response to ionizing radiation von Anoud, M., Delagoutte, Emmanuelle, Helleu, Quentin, Brion, A., Duvernois-Berthet, Evelyne, As, M., Marques, X., Lamribet, K., Senamaud, C., Jourdren, L., Adrait, A., Heinrich, S., Toutirais, G., Hamlaoui, S., Gropplero, G., Giovannini, I., Ponger, L., Gèze, M., Blugeon, C., Coute, Y., Guidetti, R., Rebecchi, L, Giovannangeli, C., de Cian, A., Concordet, J-P.

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Specific hypomethylated CpGs at the IGF2 locus act as an epigenetic biomarker for familial adenomatous polyposis colorectal cancer von Miroglio, Audrey, Jammes, Hélène, Tost, Jörg, Ponger, Loïc, Gut, Ivo Glynne, El Abdalaoui, Hafida, Coste, Joël, Chaussade, Stanislas, Arimondo, Paola B, Lamarque, Dominique, Dandolo, Luisa

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