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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: bertini es. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS. Schoenmakers DH, et al. BMC Neurol. 2023 Aug 17;23(1):305. doi: 10.1186/s12883-023-03354-9. BMC Neurol. 2023. PMID: 37592248 Free PMC article.
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Németh AH, Antoniades CA, Dukart J, Minnerop M, Rentz C, Schuman BJ, van de Warrenburg B, Willemse I, Bertini E, Gupta AS, de Mello Monteiro CB, Almoajil H, Quinn L, Perlman SB, Horak F, Ilg W, Traschütz A, Vogel AP, Dawes H; AGI Digital-Motor Biomarkers Working Group. Németh AH, et al. Cerebellum. 2024 Jun;23(3):912-923. doi: 10.1007/s12311-023-01608-3. Epub 2023 Nov 28. Cerebellum. 2024. PMID: 38015365 Free PMC article. Review.
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.
71 results