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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.

  • 20 Similar Profiles
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Medulloblastoma Medicine & Life Sciences
Genes Medicine & Life Sciences
Leukoencephalopathies Medicine & Life Sciences
Tooth Medicine & Life Sciences

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Research Output 2001 2019

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

Polynucleotide 5'-Hydroxyl-Kinase
Cerebellar Ataxia
Phosphoric Monoester Hydrolases

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

Brain Stem

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

Magnetic Resonance Imaging
Diffusion Tensor Imaging
Spinal Cord
Hereditary Spastic Paraplegia

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

Congenital Hypothyroidism
Mutant Proteins

Spinal cord involvement in adult-onset metabolic and genetic diseases

Marelli, C., Salsano, E., Politi, L. S. & Labauge, P., Feb 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 2, p. 211-218 8 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Metabolic Diseases
Spinal Cord
Rare Diseases