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

Year Number of Results
2002 3
2003 1
2005 2
2006 3
2008 2
2009 4
2010 3
2011 6
2012 10
2013 10
2014 5
2015 8
2016 6
2017 10
2018 8
2019 9
2020 7
2021 9
2022 4
2023 9
2024 5

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99 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.
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.
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.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: zorzi g. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 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.
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.
Diagnosis and treatment of pediatric onset isolated dystonia.
Zorzi G, Carecchio M, Zibordi F, Garavaglia B, Nardocci N. Zorzi G, et al. Eur J Paediatr Neurol. 2018 Mar;22(2):238-244. doi: 10.1016/j.ejpn.2018.01.006. Epub 2018 Jan 17. Eur J Paediatr Neurol. 2018. PMID: 29396174 Review.
99 results