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Page 1
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Yi-Chung L, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. Cortese A, et al. Among authors: bertini a. Brain. 2025 Oct 3;148(10):3737-3747. doi: 10.1093/brain/awaf021. Brain. 2025. PMID: 39938083 Free PMC article.
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
Huggett SB, Tebbenkamp ATN, Rinaldi C, Jayaseelan D, Zampedri L, Blasi L, Fortuna A, Alqahtani A, Kokkinis A, Dahlqvist J, Fenu S, Cavalca E, Bertini A, Mariotti C, Grunseich C, Kawase T, Kishimoto Y, Yamada S, Katsuno M, Fratta P, Conte A, Sabatelli M, Soraru G, Vissing J, Kang M, Park JS, Pareyson D, Viglietta V. Huggett SB, et al. Among authors: bertini a. Neurology. 2024 Dec 24;103(12):e210088. doi: 10.1212/WNL.0000000000210088. Epub 2024 Nov 26. Neurology. 2024. PMID: 39591556 Free PMC article.
Neuroprotection and Non-Invasive Brain Stimulation: Facts or Fiction?
Guidetti M, Bertini A, Pirone F, Sala G, Signorelli P, Ferrarese C, Priori A, Bocci T. Guidetti M, et al. Among authors: bertini a. Int J Mol Sci. 2022 Nov 9;23(22):13775. doi: 10.3390/ijms232213775. Int J Mol Sci. 2022. PMID: 36430251 Free PMC article. Review.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, Massucco S, Falzone YM, Bellone E, Taioli F, Geroldi A, Occhipinti G, Ferrarini M, Cavalca E, Crivellari L, Mandich P, Balistreri F, Magri S, Taroni F, Previtali SC, Schenone A, Grandis M, Manganelli F, Fabrizi GM, Mazzeo A, Pareyson D, Pisciotta C. Bertini A, et al. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842. J Neurol Neurosurg Psychiatry. 2024. PMID: 38839277 Free PMC article.
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C, Danti FR, Russo M, Tozza S, Massucco S, Bertini A, Pisciotta C, D'Arma F, Gentile L, Falzone YM, Ratti A, Catteruccia M, Fiorillo C, Cicala G, Luigetti M, Magri S, Bellone E, Fabrizi GM, Manganelli F, Grandis M, Mazzeo A, Pareyson D, Moroni I, Previtali SC. Laurini C, et al. Among authors: bertini a. Neurol Genet. 2025 Oct 10;11(6):e200314. doi: 10.1212/NXG.0000000000200314. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127313 Free PMC article.
64 results