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CLN6-related continuum phenotype caused by aberrant splicing.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L. Invernizzi F, et al. Among authors: panteghini c. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
Illustration of the long-term efficacy of pallidal deep brain stimulation in a patient with PKAN dystonia.
Romito LM, Colucci F, Zorzi G, Garavaglia B, Kaymak A, Mazzoni A, Panteghini C, Golfrè Andreasi N, Rinaldo S, Levi V, Carecchio M, Eleopra R. Romito LM, et al. Among authors: panteghini c. Parkinsonism Relat Disord. 2024 Jun;123:106977. doi: 10.1016/j.parkreldis.2024.106977. Epub 2024 Apr 25. Parkinsonism Relat Disord. 2024. PMID: 38691977 No abstract available.
Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation.
Colucci F, Barca S, Cilia R, De Franco V, Elia AE, Golfrè Andreasi N, Romito L, Telese R, Braccia A, Leta V, Grisoli M, Panteghini C, Garavaglia B, Devigili G, Eleopra R. Colucci F, et al. Among authors: panteghini c. Mov Disord Clin Pract. 2024 Aug;11 Suppl 2(Suppl 2):S14-S16. doi: 10.1002/mdc3.14000. Epub 2024 Feb 23. Mov Disord Clin Pract. 2024. PMID: 38400595 Free PMC article. No abstract available.
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.
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 Free article.
44 results