• 1521 Citations
  • 24 h-Index
19972019
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Fingerprint Dive into the research topics where Denise Alessandra Cassandrini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 26 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Dystroglycans Medicine & Life Sciences

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Research Output 1997 2019

  • 1521 Citations
  • 24 h-Index
  • 82 Article
  • 1 Conference contribution

A novel approach to gene analysis: Gene panels and cluster definition to assist genotyping patients with congenital myopathies

Calderisi, M., Ceppa, I., Cassandrini, D., Trovato, R., Bertocci, G., Tonacci, A., Astrea, G., Conte, R. & Santorelli, F. M., Jan 1 2019, HEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019. Moucek, R., Fred, A. & Gamboa, H. (eds.). SciTePress, p. 345-352 8 p. (HEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Genes
Multivariate Analysis
2 Citations (Scopus)

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., Apr 15 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Neuroimaging
Phenotype
Mutation
Electron Transport
1 Citation (Scopus)

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

Nesti, C., Rubegni, A., Tolomeo, D., Baldacci, J., Cassandrini, D., D’Amore, F. & Santorelli, F. M., Aug 1 2019, In : Neurological Sciences. 40, 8, p. 1705-1708 4 p.

Research output: Contribution to journalArticle

Transfer RNA
Mitochondrial DNA
Phenotype
Mutation
Mitochondrial Diseases

VARS2-linked mitochondrial encephalopathy: Two case reports enlarging the clinical phenotype

Begliuomini, C., Magli, G., Di Rocco, M., Santorelli, F. M., Cassandrini, D., Nesti, C., Deodato, F., Diodato, D., Casellato, S., Simula, D. M., Dessì, V., Eusebi, A., Carta, A. & Sotgiu, S., 2019, In : BMC Medical Genetics. 20, 1

Research output: Contribution to journalArticle

Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes