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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Autor: T. Lerman Sagie, M. Weisz-Hubshman, Eri Imagawa, Alvit Veber, E. Banne, Naomichi Matsumoto, H. Meirson, Gali Heimer, Dorit Lev, S. Modai, Lina Basel-Salmon, Annick Raas-Rothschild, Dina Marek-Yagel, Osnat Konen, Nechama Shalva, Concetta Bormans, R. Michaelson-Cohen, Bruria Ben-Zeev, R. Beeri, Y. Shilon, Noam Shomron, Doron M. Behar, Shay Tzur, Naama Orenstein

Publikováno v: European Journal of Paediatric Neurology. 23:418-426

The human WW Domain Containing Oxidoreductase (WWOX) gene was originally described as a tumor suppressor gene. However, recent reports have demonstrated its cardinal role in the pathogenesis of central nervous systems disorders such as epileptic ence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c490b16d1844fc6ee6685a14f688e0e3
https://doi.org/10.1016/j.ejpn.2019.02.003

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Autor: M. Weisz Hubshman, C.E.M. Hollak, Marc G. Berger, Theodore Marinakis, Fiorina Giona, Ursula Plöckinger, Hanna Rosenbaum, Marieke Biegstraaten, Gregory M. Pastores, J. Timmerman, Tanya Collin-Histed, Eugen Mengel, Dimitrios I. Zafeiriou, Cristina Fraga, M. Di Rocco, Ari Zimran, Nadia Belmatoug, Per Ole Iversen, Argiris Symeonidis, Derralynn Hughes, Anna Tylki-Szymańska, Elena Lukina, Jeff Szer, S. vom Dahl, M. Hasanhodzic, P Giraldo, Timothy M. Cox, Christine Serratrice, A.I. Kiewiet, Maciej Machaczka

Publikováno v: Blood cells, molecules & diseases, 68, 203-208. Academic Press Inc.
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, Elsevier, 2018, 68, pp.203-208. ⟨10.1016/j.bcmd.2016.10.008⟩

Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a602f7e007575969685b655e309955cd
https://doi.org/10.1016/j.bcmd.2016.10.008

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