Garavelli, Livia

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 164

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: Identification of 18 COL5A1 and 2 COL5A2 novel mutations

Ritelli, M., Dordoni, C., Venturini, M., Chiarelli, N., Quinzani, S., Traversa, M., Zoppi, N., Vascellaro, A., Wischmeijer, A., Manfredini, E., et al. (2013) · Orphanet Journal of Rare Diseases

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 134

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Errichiello, E., Zagnoli-Vieira, G., Rizzi, R., Garavelli, L., Caldecott, K. W., & Zuffardi, O. (2020) · Journal of Human Genetics

Genetic Neurodegenerative DiseasesDNA Repair Mechanisms

Cited by 12