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Page 1
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.
De Dominicis A, Stregapede F, Colona VL, Nicita F, Sartorelli J, Sparascio FP, Terracciano A, Novelli A, Specchio N, Bertini ES, Trivisano M. De Dominicis A, et al. Among authors: bertini es. Seizure. 2024 Oct;121:141-146. doi: 10.1016/j.seizure.2024.08.012. Epub 2024 Aug 17. Seizure. 2024. PMID: 39178560
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, Rizza T, Bellacchio E, Legati A, Palermo C, Marchet S, Lamperti C, Novelli A, Mercuri EM, Bertini ES, Pane M, Ghezzi D, Carrozzo R. Berti B, et al. Among authors: bertini es. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.
Lavorgna L, Maida E, Reinhard C, Cras P, Reetz K, Molnar MJ, Nonnekes J, Medijainen K, Summa S, Diserens K, Petrarca M, Albanese A, Leocani L, Delussi M, Vinciguerra C, Pagliano E, Kubica J, Lallemant P, Wenning G, Sival D, Groleger Srsen K, Bertini ES, Lopane G, Boesch S, Bonavita S, Crosiers D, Muresanu D, Timmann D, Federico A; European Reference Network on Rare Neurological Disease (ERN-RND) Telerehabilitation Working Group. Lavorgna L, et al. Among authors: bertini es. Telemed J E Health. 2024 Sep;30(9):2419-2430. doi: 10.1089/tmj.2023.0702. Epub 2024 Jul 1. Telemed J E Health. 2024. PMID: 38946606 Review.
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Trucco F, Ridout D, Weststrate H, Scoto M, Rohwer A, Coratti G, Main ML, Mayhew AG, Montes J, De Sanctis R, Pane M, Pera MC, Sansone VA, Albamonte E, D'Amico A, Bruno C, Messina SS, Childs AM, Willis T, Ong MT, Servais L, Majumdar A, Hughes I, Marini-Bettolo C, Parasuraman D, Gowda VL, Baranello G, Bertini ES, De Vivo DC, Darras BT, Day JW, Mayer O, Zolkipli-Cunningham Z, Finkel RS, Mercuri E, Muntoni F; for iSMAc. Trucco F, et al. Among authors: bertini es. Neurol Clin Pract. 2024 Jun;14(3):e200298. doi: 10.1212/CPJ.0000000000200298. Epub 2024 May 17. Neurol Clin Pract. 2024. PMID: 38932995
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S. Kalm T, et al. Among authors: bertini es. Am J Hum Genet. 2024 Jun 6;111(6):1206-1221. doi: 10.1016/j.ajhg.2024.04.019. Epub 2024 May 20. Am J Hum Genet. 2024. PMID: 38772379 Free PMC article.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: bertini es. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
67 results