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Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
Politano D, Catalano G, Pezzotti E, Varesio C, Sirchia F, Casella A, Rognone E, Pichiecchio A, Borgatti R, Orcesi S. Politano D, et al. Among authors: pezzotti e. Genes (Basel). 2023 Sep 19;14(9):1817. doi: 10.3390/genes14091817. Genes (Basel). 2023. PMID: 37761957 Free PMC article.
Pilot Study on Quantitative Cervical Cord and Muscular MRI in Spinal Muscular Atrophy: Promising Biomarkers of Disease Evolution and Treatment?
Savini G, Asteggiano C, Paoletti M, Parravicini S, Pezzotti E, Solazzo F, Muzic SI, Santini F, Deligianni X, Gardani A, Germani G, Farina LM, Bergsland N, Gandini Wheeler-Kingshott CAM, Berardinelli A, Bastianello S, Pichiecchio A. Savini G, et al. Among authors: pezzotti e. Front Neurol. 2021 Mar 29;12:613834. doi: 10.3389/fneur.2021.613834. eCollection 2021. Front Neurol. 2021. PMID: 33854470 Free PMC article.
18 results