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Page 1
Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging.
Lerjefors L, Andretta S, Bonato G, Mainardi M, Carecchio M, Antonini A. Lerjefors L, et al. Among authors: carecchio m. Mov Disord Clin Pract. 2022 Mar 28;9(4):516-521. doi: 10.1002/mdc3.13432. eCollection 2022 May. Mov Disord Clin Pract. 2022. PMID: 35582315 Free PMC article. Review.
Long-term safety, discontinuation and mortality in an Italian cohort with advanced Parkinson's disease on levodopa/carbidopa intestinal gel infusion.
Garrì F, Russo FP, Carrer T, Weis L, Pistonesi F, Mainardi M, Sandre M, Savarino E, Farinati F, Del Sorbo F, Soliveri P, Calandrella D, Biundo R, Carecchio M, Zecchinelli AL, Pezzoli G, Antonini A. Garrì F, et al. Among authors: carecchio m. J Neurol. 2022 Oct;269(10):5606-5614. doi: 10.1007/s00415-022-11269-7. Epub 2022 Jul 25. J Neurol. 2022. PMID: 35876875 Free PMC article.
Correction to: Long-term safety, discontinuation and mortality in an Italian cohort with advanced Parkinson's disease on levodopa/carbidopa intestinal gel infusion.
Garrì F, Russo FP, Carrer T, Weis L, Pistonesi F, Mainardi M, Sandre M, Savarino E, Farinati F, Del Sorbo F, Soliveri P, Calandrella D, Biundo R, Carecchio M, Zecchinelli AL, Pezzoli G, Antonini A. Garrì F, et al. Among authors: carecchio m. J Neurol. 2022 Oct;269(10):5615-5616. doi: 10.1007/s00415-022-11321-6. J Neurol. 2022. PMID: 35986763 Free PMC article. No abstract available.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: carecchio m. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Adult diagnosis of Cockayne syndrome.
Cocco A, Calandrella D, Carecchio M, Garavaglia B, Albanese A. Cocco A, et al. Among authors: carecchio m. Neurology. 2019 Nov 5;93(19):854-855. doi: 10.1212/WNL.0000000000008449. Neurology. 2019. PMID: 31685704 No abstract available.
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban V, Carecchio M, Rea G, Bowirrat A, Kirmani S, Magistrelli L, Efthymiou S, Schottlaender L, Vandrovcova J, Salpietro V, Salsano E, Pareyson D, Chiapparini L, Jan F, Ibrahim S, Khan F, Qarnain Z, Groppa S, Bajaj N, Balint B, Bhatia KP, Lees A, Morrison PJ, Wood NW, Garavaglia B, Houlden H. Chelban V, et al. Among authors: carecchio m. Neurol Genet. 2020 Feb 20;6(2):e399. doi: 10.1212/NXG.0000000000000399. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32211515 Free PMC article.
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Magistrelli L, Croce R, De Marchi F, Basagni C, Carecchio M, Nasuelli N, Cantello R, Invernizzi F, Garavaglia B, Comi C, Mazzini L, D'Alfonso S, Corrado L. Magistrelli L, et al. Among authors: carecchio m. Neurogenetics. 2021 Mar;22(1):65-70. doi: 10.1007/s10048-021-00634-9. Epub 2021 Jan 20. Neurogenetics. 2021. PMID: 33471268 Free PMC article.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Nasca A, Mencacci NE, Invernizzi F, Zech M, Keller Sarmiento IJ, Legati A, Frascarelli C, Bustos BI, Romito LM, Krainc D, Winkelmann J, Carecchio M, Nardocci N, Zorzi G, Prokisch H, Lubbe SJ, Garavaglia B, Ghezzi D. Nasca A, et al. Among authors: carecchio m. Brain. 2023 Jul 3;146(7):2730-2738. doi: 10.1093/brain/awad068. Brain. 2023. PMID: 36860166 Free PMC article.
CANS: Childhood acute neuropsychiatric syndromes.
Zibordi F, Zorzi G, Carecchio M, Nardocci N. Zibordi F, et al. Among authors: carecchio m. Eur J Paediatr Neurol. 2018 Mar;22(2):316-320. doi: 10.1016/j.ejpn.2018.01.011. Eur J Paediatr Neurol. 2018. PMID: 29398245 Review.
94 results