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Page 1
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: danti fr. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. Danti FR, et al. Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28357411 Free PMC article.
The expanding spectrum of movement disorders in genetic epilepsies.
Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA. Papandreou A, et al. Among authors: danti fr. Dev Med Child Neurol. 2020 Feb;62(2):178-191. doi: 10.1111/dmcn.14407. Epub 2019 Nov 29. Dev Med Child Neurol. 2020. PMID: 31784983 Free article. Review.
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ, Nardocci N, Mencacci NE. Zorzi G, et al. Among authors: danti fr. Mov Disord. 2021 Jun;36(6):1461-1462. doi: 10.1002/mds.28547. Epub 2021 Feb 27. Mov Disord. 2021. PMID: 33638881 No abstract available.
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
Zorzi G, Danti FR, Reale C, Panteghini C, Invernizzi F, Moroni I, Garavaglia B, Nardocci N, Chiapparini L. Zorzi G, et al. Among authors: danti fr. Mov Disord. 2021 Jun;36(6):1463-1464. doi: 10.1002/mds.28555. Epub 2021 Mar 5. Mov Disord. 2021. PMID: 33665847 No abstract available.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition. Nanetti L, et al. Among authors: danti fr. Neurol Sci. 2024 Mar;45(3):1007-1016. doi: 10.1007/s10072-023-07101-3. Epub 2023 Oct 19. Neurol Sci. 2024. PMID: 37853291
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
Moroni I, Danti FR, Pareyson D, Pagliano E, Piscosquito G, Foscan M, Marchi A, Ardissone A, Genitrini S, Wu TT, Shy ME, Ramchandren S. Moroni I, et al. Among authors: danti fr. J Peripher Nerv Syst. 2022 Jun;27(2):127-130. doi: 10.1111/jns.12494. Epub 2022 May 3. J Peripher Nerv Syst. 2022. PMID: 35416371 Free PMC article.
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M, Kaliakatsos M, Valentine J, Nemeth AH, Jayawant S, Reid KM, Mankad K, Sudhakar S, Ben-Pazi H, Barwick K, Kurian MA. Steel DBD, et al. Among authors: danti fr. Neurology. 2023 May 23;100(21):e2214-e2223. doi: 10.1212/WNL.0000000000207241. Epub 2023 Apr 11. Neurology. 2023. PMID: 37041080 Free PMC article.
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