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Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Among authors: nobili l. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free article.
Hypersomnia and cataplexy in Moebius syndrome.
Barbieri A, Veneruso M, Chiarella L, Nobili L, Cordani R. Barbieri A, et al. Among authors: nobili l. Sleep Med. 2024 Oct 9;124:421-423. doi: 10.1016/j.sleep.2024.10.012. Online ahead of print. Sleep Med. 2024. PMID: 39406128 No abstract available.
Somnambulism.
Cordani R, Lopez R, Barateau L, Chenini S, Nobili L, Dauvilliers Y. Cordani R, et al. Among authors: nobili l. Sleep Med Clin. 2024 Mar;19(1):43-54. doi: 10.1016/j.jsmc.2023.10.001. Epub 2023 Nov 2. Sleep Med Clin. 2024. PMID: 38368068 Review.
Ma2 antibody-associated limbic encephalitis: The early etiology treatment may modify the disease clinical trajectory.
Mattioli P, Grisanti S, Massa F, Morbelli S, Boni S, Beronio A, Rebella G, Roccatagliata L, Nobili L, Franciotta D, Micalizzi E, Nobili F, Arnaldi D, Villani F, Benedetti L. Mattioli P, et al. Among authors: nobili f, nobili l. Epileptic Disord. 2024 Jun;26(3):407-411. doi: 10.1002/epd2.20225. Epub 2024 Apr 15. Epileptic Disord. 2024. PMID: 38619369 No abstract available.
Negative MRI and a seizure onset zone close to eloquent areas in FCD type II: Application of MRg-LiTT after a SEEG re-evaluation in pediatric patients with a previous failed surgery.
Chiarello D, Cognolato E, Francione S, Nobile G, Bosisio L, Barbagallo G, Pacetti M, Tortora D, Cantalupo G, Nobili L, Consales A. Chiarello D, et al. Among authors: nobili l. Epilepsy Behav. 2024 Apr;153:109694. doi: 10.1016/j.yebeh.2024.109694. Epub 2024 Feb 23. Epilepsy Behav. 2024. PMID: 38401416
364 results