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Year Number of Results
2009 1
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2018 4
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2023 5
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32 results

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Page 1
Protein Aggregates and Aggrephagy in Myopathies.
Gibertini S, Ruggieri A, Cheli M, Maggi L. Gibertini S, et al. Int J Mol Sci. 2023 May 8;24(9):8456. doi: 10.3390/ijms24098456. Int J Mol Sci. 2023. PMID: 37176163 Free PMC article. Review.
VCP-related myopathy: a case series and a review of literature.
Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, Ruggieri A, Maggi L. Iannibelli E, et al. Among authors: gibertini s. Acta Myol. 2023 Mar 31;42(1):2-13. doi: 10.36185/2532-1900-244. eCollection 2023. Acta Myol. 2023. PMID: 37091525 Free PMC article. Review.
PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.
Maggi L, Gibertini S, Iannibelli E, Gallone A, Bonanno S, Cazzato D, Gerevini S, Moscatelli M, Blasevich F, Riolo G, Mantegazza R, Ruggieri A. Maggi L, et al. Among authors: gibertini s. J Neurol. 2023 Sep;270(9):4538-4543. doi: 10.1007/s00415-023-11729-8. Epub 2023 May 5. J Neurol. 2023. PMID: 37145156 Free PMC article. No abstract available.
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Cocchiararo I, Cattaneo O, Rajendran J, Chabry F, Cornut M, Soldati H, Bigot A, Mamchaoui K, Gibertini S, Bouche A, Ham DJ, Laumonier T, Prola A, Castets P. Cocchiararo I, et al. Among authors: gibertini s. Hum Mol Genet. 2023 Dec 1;32(24):3374-3389. doi: 10.1093/hmg/ddad164. Hum Mol Genet. 2023. PMID: 37756622 Free PMC article.
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Wood AJ, Lin CH, Li M, Nishtala K, Alaei S, Rossello F, Sonntag C, Hersey L, Miles LB, Krisp C, Dudczig S, Fulcher AJ, Gibertini S, Conroy PJ, Siegel A, Mora M, Jusuf P, Packer NH, Currie PD. Wood AJ, et al. Among authors: gibertini s. Nat Commun. 2021 May 19;12(1):2951. doi: 10.1038/s41467-021-23217-6. Nat Commun. 2021. PMID: 34012031 Free PMC article.
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
Piga D, Zanotti S, Ripolone M, Napoli L, Ciscato P, Gibertini S, Maggi L, Fortunato F, Rigamonti A, Ronchi D, Comi GP, Corti S, Sciacco M. Piga D, et al. Among authors: gibertini s. Int J Mol Sci. 2024 Jun 14;25(12):6547. doi: 10.3390/ijms25126547. Int J Mol Sci. 2024. PMID: 38928252 Free PMC article.
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Ruggieri A, et al. Among authors: gibertini s. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. Acta Neuropathol. 2020. PMID: 32451610 Free PMC article. No abstract available.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: gibertini s. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
32 results