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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: colangelo i. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
Straccia G, Reale C, Castellani M, Colangelo I, Orunesu E, Meoni S, Moro E, Krack P, Prokisch H, Zech M, Romito LM, Garavaglia B. Straccia G, et al. Among authors: colangelo i. Parkinsonism Relat Disord. 2022 Nov;104:3-6. doi: 10.1016/j.parkreldis.2022.09.012. Epub 2022 Sep 24. Parkinsonism Relat Disord. 2022. PMID: 36183459
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: colangelo i. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340 Free article.
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Danti FR, Sarmiento IJK, Moloney PB, Colangelo I, Graziola F, Garavaglia B, Zorzi G, Mencacci NE, Lubbe SJ. Danti FR, et al. Among authors: colangelo i. Mov Disord. 2024 Apr;39(4):747-749. doi: 10.1002/mds.29732. Epub 2024 Feb 21. Mov Disord. 2024. PMID: 38380600 No abstract available.
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
Sorrentino U, Romito LM, Garavaglia B, Fichera M, Colangelo I, Prokisch H, Winkelmann J, Necpal J, Jech R, Zech M. Sorrentino U, et al. Among authors: colangelo i. Tremor Other Hyperkinet Mov (N Y). 2024 Apr 10;14:16. doi: 10.5334/tohm.858. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38617829 Free PMC article. Review.
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: colangelo i. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
Economic analysis of remote monitoring of cardiac implantable electronic devices: Results of the Health Economics Evaluation Registry for Remote Follow-up (TARIFF) study.
Ricci RP, Vicentini A, D'Onofrio A, Sagone A, Rovaris G, Padeletti L, Morichelli L, Fusco A, De Vivo S, Lombardi L, Denaro A, Pollastrelli A, Colangelo I, Santini M. Ricci RP, et al. Among authors: colangelo i. Heart Rhythm. 2017 Jan;14(1):50-57. doi: 10.1016/j.hrthm.2016.09.008. Epub 2016 Sep 8. Heart Rhythm. 2017. PMID: 27614025 Free article.
13 results