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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
Microcephaly
Cerebellar Ataxia
Phosphoric Monoester Hydrolases
Phenotype

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

Adrenoleukodystrophy
Leukoencephalopathies
Mutation
Brain Stem
Phenotype

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

Adrenoleukodystrophy
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

Genes
Phenotype
Congenital Hypothyroidism
Mutation
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
Atrophy