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RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. Mendes MI, et al. Among authors: di bella d. Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8. Ann Clin Transl Neurol. 2020. PMID: 31814314 Free PMC article.
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
Pendular nystagmus in hypomyelinating leukodystrophy.
Bassani R, Pareyson D, D'Incerti L, Di Bella D, Taroni F, Salsano E. Bassani R, et al. Among authors: di bella d, d incerti l. J Clin Neurosci. 2013 Oct;20(10):1443-5. doi: 10.1016/j.jocn.2012.11.014. Epub 2013 Jul 8. J Clin Neurosci. 2013. PMID: 23845262
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
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.
Fenu S, Castellotti B, Farina L, Cavallaro T, Di Bella D, Benzoni C, Gellera C, Pareyson D, Taroni F, Salsano E. Fenu S, et al. Among authors: di bella d. Neurology. 2019 Aug 13;93(7):310-312. doi: 10.1212/WNL.0000000000007951. Epub 2019 Jul 9. Neurology. 2019. PMID: 31289144 No abstract available.
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
131 results