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Fingerprint Dive into the research topics where Celeste Panteghini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 12 Similar Profiles
Mutation Medicine & Life Sciences
Aicardi Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Movement Disorders Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Neuroaxonal Dystrophies Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Corpus Striatum Medicine & Life Sciences

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Research Output 2012 2019

  • 147 Citations
  • 8 h-Index
  • 16 Article
  • 3 Letter
  • 1 Short survey
  • 1 Review article

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes
1 Citation (Scopus)

Encephalopathies with intracranial calcification in children: Clinical and genetic characterization

Tonduti, D., Panteghini, C., Pichiecchio, A., Decio, A., Carecchio, M., Reale, C., Moroni, I., Nardocci, N., Campistol, J., Garcia-Cazorla, A., Perez Duenas, B., Zorzi, G., Ardissone, A., Granata, T., Freri, E., Zibordi, F., Ragona, F., D'Arrigo, S., Saletti, V., Esposito, S. & 22 others, Pantaleoni, C., Riva, D., De Giorgis, V., Cereda, C., Valente, M. L., Sproviero, D., Poo Arguelles, M. P., Estupina, C. F., Sans Fito, A. M., Martorell Sampol, L., Del Mar O'Callaghan Gordo, M., Ortez Gonzalez, C. I., Gonzalez Alvarez, V., Garcia-Segarra, N., Fusco, C., Bertini, E., Diodato, D., Fazzi, E., Galli, J., Chiapparini, L., Garavaglia, B. & Orcesi, S., Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 135.

Research output: Contribution to journalArticle

Brain Diseases
Genes
Exome
Phenotype
Inborn Genetic Diseases

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Cerebral Calcification International Study Group, Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, p. 135

Research output: Contribution to journalArticle

Brain Diseases
Genes
Exome
Phenotype
Inborn Genetic Diseases
20 Citations (Scopus)

Primary brain calcification: an international study reporting novel variants and associated phenotypes

The French PFBC study group, Oct 1 2018, In : European Journal of Human Genetics. 26, 10, p. 1462-1477 16 p.

Research output: Contribution to journalArticle

Proto-Oncogene Proteins c-sis
Platelet-Derived Growth Factor beta Receptor
Phenotype
Neurobehavioral Manifestations
Genetic Counseling
2 Citations (Scopus)

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients

Tonduti, D., Invernizzi, F., Panteghini, C., Pinelli, L., Battaglia, S., Fazzi, E., Zorzi, G., Moroni, I., Garavaglia, B., Chiapparini, L. & Nardocci, N., Mar 1 2018, In : European Journal of Paediatric Neurology. 22, 2, p. 332-335 4 p.

Research output: Contribution to journalArticle

Corpus Striatum
Necrosis
Vitamins
Therapeutics
Thiamine