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Natural history of adults with KBG syndrome: A physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Bolund ACS, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ. Bayat A, et al. Among authors: vignoli a. Genet Med. 2024 Aug;26(8):101170. doi: 10.1016/j.gim.2024.101170. Epub 2024 May 27. Genet Med. 2024. PMID: 38818797
Rett syndrome.
Gold WA, Percy AK, Neul JL, Cobb SR, Pozzo-Miller L, Issar JK, Ben-Zeev B, Vignoli A, Kaufmann WE. Gold WA, et al. Among authors: vignoli a. Nat Rev Dis Primers. 2024 Nov 7;10(1):84. doi: 10.1038/s41572-024-00568-0. Nat Rev Dis Primers. 2024. PMID: 39511247 Review.
Gut microbiota profile in CDKL5 deficiency disorder patients.
Borghi E, Xynomilakis O, Ottaviano E, Ceccarani C, Viganò I, Tognini P, Vignoli A. Borghi E, et al. Among authors: vignoli a. Sci Rep. 2024 Mar 28;14(1):7376. doi: 10.1038/s41598-024-56989-0. Sci Rep. 2024. PMID: 38548767 Free PMC article.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Teutonico F, Volpe C, Proto A, Costi I, Cavallari U, Doneda P, Iascone M, Sturiale L, Barone R, Martinelli S, Vignoli A. Teutonico F, et al. Among authors: vignoli a. Neurogenetics. 2024 Jul;25(3):281-286. doi: 10.1007/s10048-024-00754-y. Epub 2024 Mar 18. Neurogenetics. 2024. PMID: 38498292 Review.
Neuropsychological tests at the Italian Centers for Cognitive Disorders and Dementias: results from a survey on 450 specialized services.
Vaccaro R, Lorenzini P, Giaquinto F, Matascioli F, Carnevale G, Sciancalepore F, Gasparini M, Salvi E, Corbo M, Locuratolo N, Vanacore N, Bacigalupo I; Permanent Table of the National Dementia Plan Study Group; CCDDs Study Group. Vaccaro R, et al. Aging Clin Exp Res. 2024 Dec 20;37(1):1. doi: 10.1007/s40520-024-02869-6. Aging Clin Exp Res. 2024. PMID: 39704981 Free PMC article.
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: vignoli a. Front Neurol. 2024 Jun 17;15:1388506. doi: 10.3389/fneur.2024.1388506. eCollection 2024. Front Neurol. 2024. PMID: 38952469 Free PMC article.
256 results