Simonati A - Search Results

1

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Bertolini A, Rigoldi M, Cianflone A, Mariani R, Piperno A, Canonico F, Cefalo G, Carubbi F, Simonati A, Urban ML, Beccari T, Parini R. Bertolini A, et al. Among authors: simonati a. Clin Dysmorphol. 2024 Jan 1;33(1):1-8. doi: 10.1097/MCD.0000000000000474. Epub 2023 Nov 23. Clin Dysmorphol. 2024. PMID: 37791705 Free PMC article.

2

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

Vaisfeld A, Taormina S, Simonati A, Neri G. Vaisfeld A, et al. Among authors: simonati a. Genes (Basel). 2022 Oct 4;13(10):1792. doi: 10.3390/genes13101792. Genes (Basel). 2022. PMID: 36292677 Free PMC article.

3

Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update.

Simonati A, Williams RE, Schulz A. Simonati A, et al. Front Neurol. 2022 Nov 16;13:1083113. doi: 10.3389/fneur.2022.1083113. eCollection 2022. Front Neurol. 2022. PMID: 36468054 Free PMC article. No abstract available.

4

Risk of psychosis in autism spectrum disorder individuals exposed to psychosocial stressors: A 9-year chart review study.

Bortoletto R, Bassani L, Garzitto M, Lamberti M, Simonati A, Darra F, Bhattacharyya S, Comacchio C, Balestrieri M, Arcangeli D, Colizzi M. Bortoletto R, et al. Among authors: simonati a. Autism Res. 2023 Nov;16(11):2139-2149. doi: 10.1002/aur.3042. Epub 2023 Nov 6. Autism Res. 2023. PMID: 37929657

5

Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain.

Pezzini F, Fiorini M, Doccini S, Santorelli FM, Zanusso G, Simonati A. Pezzini F, et al. Among authors: simonati a. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166756. doi: 10.1016/j.bbadis.2023.166756. Epub 2023 May 19. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37209872

6

Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses.

Gammaldi N, Pezzini F, Michelucci E, Di Giorgi N, Simonati A, Rocchiccioli S, Santorelli FM, Doccini S. Gammaldi N, et al. Among authors: simonati a. Neurobiol Dis. 2023 Dec;189:106349. doi: 10.1016/j.nbd.2023.106349. Epub 2023 Nov 11. Neurobiol Dis. 2023. PMID: 37952681 Free article. Review.

7

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.

Morani F, Doccini S, Galatolo D, Pezzini F, Soliymani R, Simonati A, Lalowski MM, Gemignani F, Santorelli FM. Morani F, et al. Among authors: simonati a. Biomolecules. 2022 Jul 24;12(8):1024. doi: 10.3390/biom12081024. Biomolecules. 2022. PMID: 35892334 Free PMC article.

8

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.

Doccini S, Marchese M, Morani F, Gammaldi N, Mero S, Pezzini F, Soliymani R, Santi M, Signore G, Ogi A, Rocchiccioli S, Kanninen KM, Simonati A, Lalowski MM, Santorelli FM. Doccini S, et al. Among authors: simonati a. Cells. 2022 Jun 4;11(11):1840. doi: 10.3390/cells11111840. Cells. 2022. PMID: 35681535 Free PMC article.

9

Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.

Simonati A, Williams RE. Simonati A, et al. Front Neurol. 2022 Mar 11;13:811686. doi: 10.3389/fneur.2022.811686. eCollection 2022. Front Neurol. 2022. PMID: 35359645 Free PMC article. Review.

10

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. Among authors: simonati a. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948

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