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Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C. Pensato V, et al. Among authors: di bella d. Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15. Brain. 2014. PMID: 24833714
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F. Magri S, et al. Among authors: di bella d. Hum Mutat. 2018 Dec;39(12):2060-2071. doi: 10.1002/humu.23658. Epub 2018 Oct 10. Hum Mutat. 2018. PMID: 30252181 Free article.
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L, Sarto E, Castaldo A, Magri S, Mongelli A, Rossi Sebastiano D, Canafoglia L, Grisoli M, Malaguti C, Rivieri F, D'Amico MC, Di Bella D, Franceschetti S, Mariotti C, Taroni F. Nanetti L, et al. Among authors: di bella d, d amico mc. J Neurol. 2019 Feb;266(2):378-385. doi: 10.1007/s00415-018-9141-z. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515630
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C. Castellotti B, et al. Among authors: di bella d, di donato s. Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5. Neurogenetics. 2011. PMID: 21465257
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D, Magri S, Benzoni C, Farina L, Maccagnano C, Sarto E, Moscatelli M, Baratta S, Ciano C, Piacentini SHMJ, Draghi L, Mauro E, Pareyson D, Gellera C, Taroni F, Salsano E. Di Bella D, et al. Eur J Neurol. 2021 Mar;28(3):934-944. doi: 10.1111/ene.14646. Epub 2020 Dec 3. Eur J Neurol. 2021. PMID: 33190326
131 results