• 514 Citations
  • 13 h-Index
20052019
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Fingerprint Dive into the research topics where Lucia Ziccardi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 36 Similar Profiles
Retinoschisis Medicine & Life Sciences
Visual Acuity Medicine & Life Sciences
Macular Degeneration Medicine & Life Sciences
Cytidine Diphosphate Choline Medicine & Life Sciences
Visual Evoked Potentials Medicine & Life Sciences
Retina Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Optical Coherence Tomography Medicine & Life Sciences

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Research Output 2005 2019

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study

Manara, E., Paolacci, S., D'Esposito, F., Abeshi, A., Ziccardi, L., Falsini, B., Colombo, L., Iarossi, G., Pilotta, A., Boccone, L., Guerri, G., Monica, M., Marta, B., Maltese, P. E., Buzzonetti, L., Rossetti, L. & Bertelli, M., Jun 13 2019, In : Italian Journal of Pediatrics. 45, 1, p. 72

Research output: Contribution to journalArticle

Bardet-Biedl Syndrome
Mutation
Genes
Multifactorial Inheritance
Chaperonins

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Frecer, V., Iarossi, G., Salvetti, A. P., Maltese, P. E., Delledonne, G., Oldani, M., Staurenghi, G., Falsini, B., Minnella, A. M., Ziccardi, L., Magli, A., Colombo, L., D'Esposito, F., Miertus, J., Viola, F., Attanasio, M., Maggio, E. & Bertelli, M., Oct 1 2019, In : Journal of Translational Medicine. 17, 1, 330.

Research output: Contribution to journalArticle

Open Access
Vitelliform Macular Dystrophy
Computational Biology
Virulence
Amino Acids
Visual Acuity
Obesity
Genetic Testing
Genes
Phenotype
Delayed Diagnosis

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

Marino, V., Dal Cortivo, G., Oppici, E., Maltese, P. E., D'Esposito, F., Manara, E., Ziccardi, L., Falsini, B., Magli, A., Bertelli, M. & Dell'Orco, D., Dec 15 2018, In : Human Molecular Genetics. 27, 24, p. 4204-4217 14 p.

Research output: Contribution to journalArticle

Guanylate Cyclase-Activating Proteins
Second Messenger Systems
Missense Mutation
Homeostasis
Calcium

Association between Early Neuroretinal Dysfunction and Peripheral Motor Unit Loss in Patients with Type 1 Diabetes Mellitus

Picconi, F., Mataluni, G., Ziccardi, L., Parravano, M., Di Renzo, A., Ylli, D., Pasqualetti, P., Studer, V., Chioma, L., Marfia, G. A. & Frontoni, S., Oct 4 2018, In : Journal of Diabetes Research. 2018, p. 9763507 9 p.

Research output: Contribution to journalArticle

Type 1 Diabetes Mellitus
Hallux
Diabetic Neuropathies
Neural Conduction
Peripheral Nervous System Diseases