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

Year Number of Results
1984 2
1988 2
1989 1
1990 1
1991 3
1992 4
1993 2
1994 5
1995 4
1996 1
1997 1
1998 3
1999 2
2000 4
2001 2
2002 2
2003 3
2004 5
2005 3
2006 3
2007 3
2008 7
2009 7
2010 5
2011 7
2012 6
2013 9
2014 11
2015 19
2016 16
2017 16
2018 15
2019 16
2020 13
2021 18
2022 13
2023 18
2024 12

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230 results

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Page 1
Adult-onset KMT2B-related dystonia.
Monfrini E, Ciolfi A, Cavallieri F, Ferilli M, Soliveri P, Pedace L, Erro R, Del Sorbo F, Valzania F, Fioravanti V, Cossu G, Pellegrini M, Salviati L, Invernizzi F, Oppo V, Murgia D, Giometto B, Picillo M, Garavaglia B, Morgante F, Tartaglia M, Carecchio M, Di Fonzo A. Monfrini E, et al. Among authors: garavaglia b. Brain Commun. 2022 Oct 26;4(6):fcac276. doi: 10.1093/braincomms/fcac276. eCollection 2022. Brain Commun. 2022. PMID: 36483457 Free PMC article.
Genetics, sex, and gender.
Reale C, Invernizzi F, Panteghini C, Garavaglia B. Reale C, et al. Among authors: garavaglia b. J Neurosci Res. 2023 May;101(5):553-562. doi: 10.1002/jnr.24945. Epub 2021 Sep 9. J Neurosci Res. 2023. PMID: 34498752 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: garavaglia b. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Episignature analysis of moderate effects and mosaics.
Oexle K, Zech M, Stühn LG, Siegert S, Brunet T, Schmidt WM, Wagner M, Schmidt A, Engels H, Tilch E, Monestier O, Destrėe A, Hanker B, Boesch S, Jech R, Berutti R, Kaiser F, Haslinger B, Haack TB, Garavaglia B, Krawitz P, Winkelmann J, Mirza-Schreiber N. Oexle K, et al. Among authors: garavaglia b. Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365401 Free PMC article.
The Role of VPS35 in the Pathobiology of Parkinson's Disease.
Sassone J, Reale C, Dati G, Regoni M, Pellecchia MT, Garavaglia B. Sassone J, et al. Among authors: garavaglia b. Cell Mol Neurobiol. 2021 Mar;41(2):199-227. doi: 10.1007/s10571-020-00849-8. Epub 2020 Apr 22. Cell Mol Neurobiol. 2021. PMID: 32323152 Review.
Early onset primary dystonia.
Zorzi G, Zibordi F, Garavaglia B, Nardocci N. Zorzi G, et al. Among authors: garavaglia b. 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.
The relevance of gender in Parkinson's disease: a review.
Picillo M, Nicoletti A, Fetoni V, Garavaglia B, Barone P, Pellecchia MT. Picillo M, et al. Among authors: garavaglia b. J Neurol. 2017 Aug;264(8):1583-1607. doi: 10.1007/s00415-016-8384-9. Epub 2017 Jan 4. J Neurol. 2017. PMID: 28054129 Review.
230 results