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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 13
2020 10
2021 16
2022 12
2023 17
2024 17
2025 15
2026 2

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241 results

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Page 1
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: garavaglia b. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 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.
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.
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Santos Dias Mourao A, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J. Zech M, et al. Among authors: garavaglia b. Brain. 2025 Aug 1;148(8):2827-2846. doi: 10.1093/brain/awaf059. Brain. 2025. PMID: 39937650 Free PMC article.
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.
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: garavaglia b. 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.
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 Free PMC article. Review.
Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa-Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, "Real-World" Study. The EPIC Study.
Cilia R, Colucci F, Cereda E, Elia AE, Leta V, Barca S, Zibetti M, Carecchio M, Bonvegna S, Calandra-Buonaura G, Cerroni R, De Micco R, Tamburin S, Magistrelli L, Lena F, Mascia MM, Picillo M, Cossu G, Marano M, Zampogna A, Pellicano C, Fioravanti V, Pilotto A, Zangaglia R, Avenali M, Sorbera C, Di Biasio F, Arienti F, Nicoletti A, Bagella C, Malaguti MC, Ranghetti A, Caputo E, Alimonti D, Torre E, Oggioni GD, Leuzzi C, Romito LM, Andreasi NG, Devigili G, Telese R, Braccia A, Gaudiano G, Mazzetti S, Invernizzi F, Garavaglia B, Imbalzano G, Ledda C, Antenucci P, Gozzi A, Bonato G, Percetti M, Giannini G, Sambati L, Schirinzi T, D'Anna M, Rinaldi D, Cavallieri F, Liccari M, Priori A, Sessa M, Tamma F, Canesi M, Solla P, Zappia M, Di Fonzo A, Avanzino L, Quartarone A, Valente EM, Pacchetti C, Padovani A, Valzania F, Pontieri FE, Suppa A, Pellecchia MT, Modugno N, Comi C, Tinazzi M, Tessitore A, Stefani A, Cortelli P, Isaias IU, Antonini A, Sensi M, Lopiano L, Eleopra R. Cilia R, et al. Among authors: garavaglia b. Eur J Neurol. 2025 Jul;32(7):e70179. doi: 10.1111/ene.70179. Eur J Neurol. 2025. PMID: 40662275 Free PMC article.
Diagnosis and treatment of pediatric onset isolated dystonia.
Zorzi G, Carecchio M, Zibordi F, Garavaglia B, Nardocci N. Zorzi G, et al. Among authors: garavaglia b. 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.
241 results