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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 1
2015 2
2016 2
2017 1
2018 3
2019 3
2020 4
2021 8
2022 3
2023 8
2024 2

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33 results

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Page 1
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: reale c. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Genetics, sex, and gender.
Reale C, Invernizzi F, Panteghini C, Garavaglia B. Reale C, et al. 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.
Terson's syndrome.
Reale C, Brigandì A, Gorgoglione N, Laganà A, Girlanda P. Reale C, et al. Pract Neurol. 2020 Apr;20(2):163-164. doi: 10.1136/practneurol-2019-002326. Epub 2019 Oct 30. Pract Neurol. 2020. PMID: 31666299 No abstract available.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Among authors: reale c. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
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: reale c. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340
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: reale c. 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.
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.
Colucci F, Avenali M, De Micco R, Fusar Poli M, Cerri S, Stanziano M, Bacila A, Cuconato G, Franco V, Franciotta D, Ghezzi C, Gastaldi M, Elia AE, Romito L, Devigili G, Leta V, Garavaglia B, Golfrè Andreasi N, Cazzaniga F, Reale C, Galandra C, Germani G, Mitrotti P, Ongari G, Palmieri I, Picascia M, Pichiecchio A, Verri M, Esposito F, Cirillo M, Di Nardo F, Aloisio S, Siciliano M, Prioni S, Amami P, Piacentini S, Bruzzone MG, Grisoli M, Moda F, Eleopra R, Tessitore A, Valente EM, Cilia R. Colucci F, et al. Among authors: reale c. BMJ Neurol Open. 2023 Nov 24;5(2):e000535. doi: 10.1136/bmjno-2023-000535. eCollection 2023. BMJ Neurol Open. 2023. PMID: 38027469 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: reale 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.
DYT2 screening in early-onset isolated dystonia.
Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. Carecchio M, et al. Among authors: reale c. Eur J Paediatr Neurol. 2017 Mar;21(2):269-271. doi: 10.1016/j.ejpn.2016.10.001. Epub 2016 Oct 13. Eur J Paediatr Neurol. 2017. PMID: 27771228
33 results