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Page 1
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Among authors: grosso s. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.
Leoncini S, Boasiako L, Di Lucia S, Beker A, Scandurra V, Vignoli A, Canevini MP, Prato G, Nobili L, Nicotera AG, Di Rosa G, Chiarini MBT, Cutrera R, Grosso S, Lazzeri G, Tongiorgi E, Morano P, Botteghi M, Barducci A, De Felice C. Leoncini S, et al. Among authors: grosso s. Front Neurol. 2024 Jun 17;15:1388506. doi: 10.3389/fneur.2024.1388506. eCollection 2024. Front Neurol. 2024. PMID: 38952469 Free PMC article.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Management of neonatal head injuries: A retrospective cohort study.
Parri N, Giacalone M, Greco M, Aceti A, Lucenteforte E, Corsini I; NeonATal Injury preVention rEsearch (NATIVE) group. Parri N, et al. Acta Paediatr. 2025 Jan;114(1):156-163. doi: 10.1111/apa.17420. Epub 2024 Sep 23. Acta Paediatr. 2025. PMID: 39310951
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.
Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA, Ortigoza-Escobar JD; Pediatric issues working group of the European Reference Network for Rare Neurological Diseases (ERN-RND). Amato ME, et al. Among authors: grosso s. Eur J Paediatr Neurol. 2024 Sep;52:10-19. doi: 10.1016/j.ejpn.2024.06.011. Epub 2024 Jun 29. Eur J Paediatr Neurol. 2024. PMID: 38970889
355 results