• 558 Citations
  • 14 h-Index
20072018
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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.

  • 30 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

  • 558 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
Adrenoleukodystrophy
Disease Progression
Hereditary Spastic Paraplegia
Genetic Association Studies
Pediatrics
Genes
Single Nucleotide Polymorphism
8 Citations (Scopus)

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

Exome
Myelin Sheath
Neuroimaging
Mutation
Nonsense Codon
10 Citations (Scopus)
8 Citations (Scopus)
Optic Atrophy
Mitochondrial Diseases
Mutation
Eye Manifestations
Autosomal Dominant Optic Atrophy