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

Year Number of Results
2012 1
2013 1
2014 2
2015 3
2016 5
2017 6
2018 5
2019 3
2020 2
2021 9
2022 2
2023 7
2024 5

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41 results

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Page 1
Genetics, sex, and gender.
Reale C, Invernizzi F, Panteghini C, Garavaglia B. Reale C, et al. Among authors: panteghini c. 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.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: panteghini c. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
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: panteghini c. 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.
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation.
Romito LM, Paio F, Andreasi NG, Panteghini C, Rinaldo S, Kaymak A, Mazzoni A, Colucci F, Levi V, Messina G, Garavaglia B, Eleopra R. Romito LM, et al. Among authors: panteghini c. Parkinsonism Relat Disord. 2023 Oct;115:105833. doi: 10.1016/j.parkreldis.2023.105833. Epub 2023 Aug 30. Parkinsonism Relat Disord. 2023. PMID: 37672824 No abstract available.
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E, Barone R, Sturiale L, Pasquariello R, Alessandrì MG, Pinto AM, Renieri A, Panteghini C, Garavaglia B, Cioni G, Battini R. Bonaventura E, et al. Among authors: panteghini c. Orphanet J Rare Dis. 2021 Jul 10;16(1):307. doi: 10.1186/s13023-021-01941-y. Orphanet J Rare Dis. 2021. PMID: 34246313 Free PMC article.
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Santambrogio P, Ripamonti M, Paolizzi C, Panteghini C, Carecchio M, Chiapparini L, Raimondi M, Rubio A, Di Meo I, Cozzi A, Taverna S, De Palma G, Tiranti V, Levi S. Santambrogio P, et al. Among authors: panteghini c. Int J Mol Sci. 2020 May 22;21(10):3664. doi: 10.3390/ijms21103664. Int J Mol Sci. 2020. PMID: 32456086 Free PMC article.
Cerebrospinal fluid neuropathological biomarkers in beta-propeller protein-associated neurodegeneration, with complicated parkinsonian phenotype.
Bonomo R, Elia AE, Cilia R, Romito LM, Golfrè Andreasi N, Devigili G, Bonvegna S, Straccia G, Garavaglia B, Panteghini C, Eleopra R. Bonomo R, et al. Among authors: panteghini c. Parkinsonism Relat Disord. 2022 May;98:38-40. doi: 10.1016/j.parkreldis.2022.04.005. Epub 2022 Apr 14. Parkinsonism Relat Disord. 2022. PMID: 35462318 Free article. No abstract available.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: panteghini c. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
41 results