• 637 Citations
  • 15 h-Index
20082019
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Fingerprint Dive into the research topics where Carmela Fusco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Williams Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Central Nervous System Cavernous Hemangioma Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Chorea Medicine & Life Sciences
Ubiquitin-Protein Ligases Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences

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Research Output 2008 2019

5 Citations (Scopus)

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains

Di Rienzo, M., Antonioli, M., Fusco, C., Liu, Y., Mari, M., Orhon, I., Refolo, G., Germani, F., Corazzari, M., Romagnoli, A., Ciccosanti, F., Mandriani, B., Pellico, M. T., De La Torre, R., Ding, H., Dentice, M., Neri, M., Ferlini, A., Reggiori, F., Kulesz-Martin, M. & 3 others, Piacentini, M., Merla, G. & Fimia, G. M., Jan 1 2019, In : Science Advances. 5, 5, p. 1-15 15 p., eaau8857.

Research output: Contribution to journalArticle

Open Access
muscle cells
muscles
induction
activation
mutations

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly

Iodice, A., Spagnoli, C., Frattini, D., Salerno, G. G., Rizzi, S. & Fusco, C., Jul 1 2019, In : Seizure. 69, p. 296-297 2 p.

Research output: Contribution to journalLetter

Characterization of two novel intronic variants affecting splicing in FBN1-related disorders

Fusco, C., Morlino, S., Micale, L., Ferraris, A., Grammatico, P. & Castori, M., Jun 1 2019, In : Genes. 10, 6, 442.

Research output: Contribution to journalArticle

Open Access
Marfan Syndrome
Ectopia Lentis
Aortic Diseases
Nonsense Codon
Computer Simulation

Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene

Fusco, C., Spagnoli, C., Salerno, G. G., Pavlidis, E., Frattini, D., Pisani, F. & Bassi, M. T., Jan 24 2019, In : Acta bio-medica : Atenei Parmensis. 90, 1, p. 104-107 4 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Tooth
Mutation
Genes
Peripheral Nervous System Diseases

Co-occurrence of an HSPG2 Missense Variant and Functional Polymorphisms in Atypical Schwartz-Jampel Syndrome Type 1 with Obesity: A Case Report

Maini, I., Farnetti, E., Nicoli, D., Pavlidis, E., Spagnoli, C., Salerno, G. G., Frattini, D., Iodice, A. & Fusco, C., Jan 1 2019, In : Journal of Pediatric Neurology. 17, 4, p. 149-152 4 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
Obesity
Exome
Phenotype
perlecan