• 510 Citations
  • 12 h-Index
20102019
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Fingerprint Dive into the research topics where Federica Consoli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 10 Similar Profiles
Mutation Medicine & Life Sciences
Ellis-Van Creveld Syndrome Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences
Induced Pluripotent Stem Cells Medicine & Life Sciences
Genes Medicine & Life Sciences
Huntington Disease Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences

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Research Output 2010 2019

  • 510 Citations
  • 12 h-Index
  • 28 Article
  • 1 Review article

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F. & Rosati, J., Oct 1 2019, In : Stem Cell Research. 40, 101551.

Research output: Contribution to journalArticle

Open Access
Induced Pluripotent Stem Cells
Atrophy
Cell Line
Dyskinesias
North America

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Niceta, M., Margiotti, K., Digilio, M. C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M. L., Consoli, F., Torrente, I., Ruiz-Perez, V. L., Dallapiccola, B., Marino, B., De Luca, A. & Tartaglia, M., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ellis-Van Creveld Syndrome
Mutation
Genes
Exome
Ectodermal Dysplasia

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

Fusilli, C., Migliore, S., Mazza, T., Consoli, F., De Luca, A., Barbagallo, G., Ciammola, A., Gatto, E. M., Cesarini, M., Etcheverry, J. L., Parisi, V., Al-Oraimi, M., Al-Harrasi, S., Al-Salmi, Q., Marano, M., Vonsattel, J. P. G., Sabatini, U., Landwehrmeyer, G. B. & Squitieri, F., Nov 1 2018, In : The Lancet Neurology. 17, 11, p. 986-993 8 p.

Research output: Contribution to journalArticle

Huntington Disease
Disease Progression
Gait
Psychiatry
Survival

Biological and clinical manifestations of juvenile Huntington's disease

Fusilli, C., Migliore, S., Mazza, T., Consoli, F., De Luca, A., Barbagallo, G., Ciammola, A., Gatto, E. M., Cesarini, M., Etcheverry, J. L., Parisi, V., Al-Oraimi, M., Al-Harrasi, S., Al-Salmi, Q., Marano, M., Vonsattel, J. P. G., Sabatini, U., Landwehrmeyer, G. B. & Squitieri, F., Nov 1 2018, In : The Lancet Neurology. 17, 11, p. 986-993 8 p.

Research output: Contribution to journalArticle

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Rosati, J., Bidollari, E., Rotundo, G., Ferrari, D., Torres, B., Bernardini, L., Consoli, F., De Luca, A., Santimone, I., Lamorte, G., Squitieri, F. & Vescovi, A. L., Mar 1 2018, In : Stem Cell Research. 27, p. 86-89 4 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Huntington Disease
Cell Line
Dystonia
Autistic Disorder