• 565 Citations
  • 14 h-Index
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Fingerprint Dive into the research topics where Chiara Aiello is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 24 Similar Profiles
Mutation Medicine & Life Sciences
Neuronal Ceroid-Lipofuscinoses Medicine & Life Sciences
Cysts Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences
Adrenoleukodystrophy Medicine & Life Sciences
Genes Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Optic Atrophy Medicine & Life Sciences

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Research Output 2007 2018

  • 565 Citations
  • 14 h-Index
  • 34 Article
  • 2 Letter

Natural history of a cohort of ABCD1 variants female carriers

Schirinzi, T., Vasco, G., Aiello, C., Rizzo, C., Sancesario, A., Romano, A., Favetta, M., Petrarca, M., Paone, L., Castelli, E., Bertini, E. S. & Cappa, M., Oct 8 2018, In : European Journal of Neurology. p. 326-332 7 p.

Research output: Contribution to journalArticle

Natural History
Sample Size
Fatty Acids
Disease Progression
Hereditary Spastic Paraplegia
Genetic Association Studies
Single Nucleotide Polymorphism

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Dorboz, I., Aiello, C., Simons, C., Stone, R. T., Niceta, M., Elmaleh, M., Abuawad, M., Doummar, D., Bruselles, A., Wolf, N. I., Travaglini, L., Boespflug-Tanguy, O., Tartaglia, M., Vanderver, A., Rodriguez, D. & Bertini, E., Jan 1 2017, In : Brain. 140, 10, p. 2550-2556 7 p.

Research output: Contribution to journalArticle

Myelin Sheath
Nonsense Codon

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Nasca, A., Rizza, T., Doimo, M., Legati, A., Ciolfi, A., Diodato, D., Calderan, C., Carrara, G., Lamantea, E., Aiello, C., Di Nottia, M., Niceta, M., Lamperti, C., Ardissone, A., Bianchi-Marzoli, S., Iarossi, G., Bertini, E., Moroni, I., Tartaglia, M., Salviati, L. & 2 others, Carrozzo, R. & Ghezzi, D., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

Optic Atrophy
Mitochondrial Diseases
Eye Manifestations
Autosomal Dominant Optic Atrophy