• 3 Citations
  • 1 h-Index
20172019
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Research Output 2017 2019

  • 3 Citations
  • 1 h-Index
  • 9 Article
2019

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

Research output: Contribution to journalArticle

Myopia
Intellectual Disability
Exome
Genes
Phosphoadenosine Phosphosulfate
2018
Dystrophin
Precision Medicine
Molecular Evolution
Cardiomyopathies
Muscular Dystrophies
Dystrophin
Duchenne Muscular Dystrophy
Cardiac Myocytes
Fibrosis
Inbred mdx Mouse
1 Citation (Scopus)

Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Gowran, A., Spaltro, G., Casalnuovo, F., Vigorelli, V., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Gervasini, C., Nigro, P. & Pompilio, G., Apr 1 2018, In : Stem Cell Research. 28, p. 21-24 4 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Dystrophin
Duchenne Muscular Dystrophy
Exons
Genes
Induced Pluripotent Stem Cells
Dystrophin
Duchenne Muscular Dystrophy
Exons
Genes
Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Exons
Cell Line
Mutation
Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Exons
Cell Line
Mutation
2017
2 Citations (Scopus)

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)

Spaltro, G., Vigorelli, V., Casalnuovo, F., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Nigro, P., Gervasini, C., Pompilio, G. & Gowran, A., Dec 2017, In : Stem Cell Research. 25, p. 128-131 4 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Duchenne Muscular Dystrophy
Exons
Cell Line
Dystrophin