Publications - Page 28 of 29 - ERN ITHACA

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition

Trivisano, M., Rivera, M., Terracciano, A., Ciolfi, A., Napolitano, A., Pepi, C., Calabrese, C., Digilio, M. C., Tartaglia, M., Curatolo, P., Vigevano, F., & Specchio, N. (2020).

Epilepsy & Behavior : E&B, 108, 107097. https://doi.org/10.1016/j.yebeh.2020.107097
The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia

Vakkilainen, S., Kleino, I., Honkanen, J., Salo, H., Kainulainen, L., Gräsbeck, M., Kekäläinen, E., Mäkitie, O., & Klemetti, P. (2020)

Frontiers in Immunology, 11, 2020. https://doi.org/10.3389/fimmu.2020.02020
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

van Remmerden, M. C., Hoogland, L., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R., & van Eeghen, A. M. (2020)

Journal of Autism and Developmental Disorders, 50(6), 2174–2187. https://doi.org/10.1007/s10803-019-03973-7
White matter disturbances in major depressive disorder: a coordinated analysis across 20 international cohorts in the ENIGMA MDD working group.

van Velzen, L. S., Kelly, S., Isaev, D., Aleman, A., Aftanas, L. I., Bauer, J., Baune, B. T., Brak, I. v., Carballedo, A., Connolly, C. G., Couvy-Duchesne, B., Cullen, K. R., Danilenko, K. v., Dannlowski, U., Enneking, V., Filimonova, E., Förster, K., Frodl, T., Gotlib, I. H., … Schmaal, L. (2020).

Molecular Psychiatry, 25(7), 1511–1525. https://doi.org/10.1038/s41380-019-0477-2
ATP1A2- and ATP1A3- associated early profound epileptic encephalopathy and polymicrogyria.

Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Møller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., van Haeringen, A., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J., … Muir, A. (2021).

Brain, 144(5), 1435–1450. https://doi.org/10.1093/brain/awab052
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.

Villa, R., Fergnani, V. G. C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P. F., Accogli, A., Madia, F., Tassano, E., Scala, M., Capra, V., … Bedeschi, M. F. (2020).

European Journal of Paediatric Neurology, 28, 110–119. https://doi.org/10.1016/j.ejpn.2020.07.002
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., … Eichler, E. E. (2020).

Nature Communications, 11(1), 4932. https://doi.org/10.1038/s41467-020-18723-y
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., Guerrini, R., Fujiwara, Y., Miyatake, S., Ben‐Zeev, B., Bassan, H., Reish, O., Marom, D., Hauser, N., Vu, T., … Goldberg, E. M. (2020).

Annals of Neurology, 88(2), 348–362. https://doi.org/10.1002/ana.25809
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.-C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., … Depienne, C. (2020).

Genetics in Medicine,22(3), 524–537. https://doi.org/10.1038/s41436-019-0657-0
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.

Zech, M., Brunet, T., Škorvánek, M., Blaschek, A., Vill, K., Hanker, B., Hüning, I., Haň, V., Došekova, P., Gdovinová, Z., Alhaddad, B., Berutti, R., Strom, T. M., Růžička, E., Kamsteeg, E.-J., van der Smagt, J. J., Wagner, M., Jech, R., & Winkelmann, J. (2020).

Parkinsonism & Related Disorders, 77, 70–75. https://doi.org/10.1016/j.parkreldis.2020.06.027