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Fingerprint Dive into the research topics where Ettore Salsano is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

Gatti, M., Magri, S., Nanetti, L., Sarto, E., Di Bella, D., Salsano, E., Pantaleoni, C., Mariotti, C. & Taroni, F., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2277-2283 7 p.

Research output: Contribution to journalArticle

  • Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?

    Benzoni, C., Farina, L., Pensato, V., Marotta, G., Kuqo, A., Mauro, E., Pareyson, D. & Salsano, E., Nov 1 2019, In : The neurologist. 24, 6, p. 194-197 4 p.

    Research output: Contribution to journalArticle

  • Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy

    Politi, L. S., Castellano, A., Papinutto, N., Mauro, E., Pareyson, D., Henry, R. G., Falini, A. & Salsano, E., Oct 1 2019, In : European Journal of Neurology. 26, 10, p. 1341-1344 4 p.

    Research output: Contribution to journalArticle

  • Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency

    Masnada, S., Groenweg, S., Saletti, V., Chiapparini, L., Castellotti, B., Salsano, E., Visser, W. E. & Tonduti, D., Dec 1 2019, In : Metabolic Brain Disease. 34, 6, p. 1565-1575 11 p.

    Research output: Contribution to journalArticle

  • RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

    Mendes, M. I., Green, L. M. C., Bertini, E., Tonduti, D., Aiello, C., Smith, D., Salsano, E., Beerepoot, S., Hertecant, J., von Spiczak, S., Livingston, J. H., Emrick, L., Fraser, J., Russell, L., Bernard, G., Magri, S., Di Bella, D., Taroni, F., Koenig, M. K., Moroni, I. & 12 others, Cappuccio, G., Brunetti-Pierri, N., Rhee, J., Mendelsohn, B. A., Helbig, I., Helbig, K., Muhle, H., Ismayl, O., Vanderver, A. L., Salomons, G. S., van der Knaap, M. S. & Wolf, N. I., 2019, In : Annals of Clinical and Translational Neurology. 7, 1, p. 83-93 11 p.

    Research output: Contribution to journalArticle

    Open Access