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Third national surgical consensus conference of the Italian Association of Breast Surgeons (ANISC) on management after neoadjuvant chemotherapy: The difficulty in reaching a consensus.
Schiavone A, Ventimiglia F, Zarba Meli E, Taffurelli M, Caruso F, Gentilini OD, Del Mastro L, Livi L, Castellano I, Bernardi D, Minelli M, Fortunato L; ANISC Collaborative Group. Schiavone A, et al. Eur J Surg Oncol. 2024 Apr 24;50(7):108351. doi: 10.1016/j.ejso.2024.108351. Online ahead of print. Eur J Surg Oncol. 2024. PMID: 38701582
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: zanotti s. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.
Rimoldi M, Romagnoli G, Magri F, Antognozzi S, Cinnante C, Saccani E, Ciscato P, Zanotti S, Velardo D, Corti S, Comi GP, Ronchi D. Rimoldi M, et al. Among authors: zanotti s. Front Neurol. 2024 Jan 18;14:1281953. doi: 10.3389/fneur.2023.1281953. eCollection 2023. Front Neurol. 2024. PMID: 38304327 Free PMC article.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: zanotti s. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
197 results