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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1973 1
1980 1
1995 2
1996 3
1998 1
1999 2
2000 1
2002 4
2003 2
2004 5
2005 7
2006 7
2007 3
2008 7
2009 4
2010 4
2011 10
2012 26
2013 28
2014 16
2015 16
2016 14
2017 18
2018 15
2019 16
2020 9
2021 23
2022 9
2023 21
2024 19
2025 1

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254 results

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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: zorzi g. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Axonal dystrophies.
Nardocci N, Zorzi G. Nardocci N, et al. Among authors: zorzi g. Handb Clin Neurol. 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. Handb Clin Neurol. 2013. PMID: 23622415 Review.
ATP1A3-related disorders: An update.
Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N. Carecchio M, et al. Among authors: zorzi g. Eur J Paediatr Neurol. 2018 Mar;22(2):257-263. doi: 10.1016/j.ejpn.2017.12.009. Epub 2017 Dec 21. Eur J Paediatr Neurol. 2018. PMID: 29291920 Review.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: zorzi g. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A. Monfrini E, et al. Among authors: zorzi g. Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12. Mov Disord Clin Pract. 2024. PMID: 38291845 Free PMC article.
CANS: Childhood acute neuropsychiatric syndromes.
Zibordi F, Zorzi G, Carecchio M, Nardocci N. Zibordi F, et al. Among authors: zorzi g. Eur J Paediatr Neurol. 2018 Mar;22(2):316-320. doi: 10.1016/j.ejpn.2018.01.011. Eur J Paediatr Neurol. 2018. PMID: 29398245 Review.
Early onset primary dystonia.
Zorzi G, Zibordi F, Garavaglia B, Nardocci N. Zorzi G, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):488-92. doi: 10.1016/j.ejpn.2008.12.001. Epub 2009 Jan 20. Eur J Paediatr Neurol. 2009. PMID: 19157930 Review.
Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series.
Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A; NKX2-1-Related Disorders Guideline Working Group; Blasco-Amaro JA, Ortigoza-Escobar JD. Nou-Fontanet L, et al. Among authors: zorzi g. Eur J Neurol. 2023 Dec;30(12):3928-3948. doi: 10.1111/ene.16038. Epub 2023 Sep 11. Eur J Neurol. 2023. PMID: 37694681 Review.
Cationic nanoemulsions as nucleic acids delivery systems.
Teixeira HF, Bruxel F, Fraga M, Schuh RS, Zorzi GK, Matte U, Fattal E. Teixeira HF, et al. Among authors: zorzi gk. Int J Pharm. 2017 Dec 20;534(1-2):356-367. doi: 10.1016/j.ijpharm.2017.10.030. Epub 2017 Oct 13. Int J Pharm. 2017. PMID: 29038065 Review.
254 results