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Isabella Ceccherini

Showing results (61-70 of 180) with videos related to

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Neurobiology of Disease|October 4, 2011
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteinsEleonora Di Zanni, Tiziana Bachetti, Sara Parodi, et al.
Journal of Molecular Medicine (Berlin, Germany)|February 7, 2012
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2BSara Parodi, Eleonora Di Zanni, Simona Di Lascio, et al.
Experimental Cell Research|May 18, 2010
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulationTiziana Bachetti, Eleonora Di Zanni, Pietro Balbi, et al.
Human Mutation|March 24, 2009
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease associationStacey Arnold, Anna Pelet, Jeanne Amiel, et al.
Molecular Medicine (Cambridge, Mass.)|May 19, 2026
PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHSChiara Africano, Tiziana Bachetti, Eleonora Di Zanni, et al.
International Journal of Molecular Sciences|November 11, 2022
Exploration of Tools for the Interpretation of Human Non-Coding VariantsNicole Tabarini, Elena Biagi, Paolo Uva, et al.
Frontiers in Pharmacology|December 24, 2021
Beneficial Effect of Phenytoin and Carbamazepine on <i>GFAP</i> Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's DiseaseTiziana Bachetti, Eleonora Di Zanni, Annalisa Adamo, et al.
Clinical Immunology (Orlando, Fla.)|May 17, 2019
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung diseaseCarlo Pietrasanta, Francesca Minoia, Sofia Torreggiani, et al.
Genes|February 27, 2026
ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across AgesGiulia Amico, Mariasavina Severino, Marta Bertamino, et al.
American Journal of Respiratory and Critical Care Medicine|June 10, 2006
Brainstem anomalies in two patients affected by congenital central hypoventilation syndromeTiziana Bachetti, Angela Robbiano, Sara Parodi, et al.
Pageof 18

Showing results (61-70 of 180) with videos related to

Sort By:
Pageof 18
Neurobiology of Disease|October 4, 2011
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteinsEleonora Di Zanni, Tiziana Bachetti, Sara Parodi, et al.
Journal of Molecular Medicine (Berlin, Germany)|February 7, 2012
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2BSara Parodi, Eleonora Di Zanni, Simona Di Lascio, et al.
Experimental Cell Research|May 18, 2010
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulationTiziana Bachetti, Eleonora Di Zanni, Pietro Balbi, et al.
Human Mutation|March 24, 2009
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease associationStacey Arnold, Anna Pelet, Jeanne Amiel, et al.
Molecular Medicine (Cambridge, Mass.)|May 19, 2026
PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHSChiara Africano, Tiziana Bachetti, Eleonora Di Zanni, et al.
International Journal of Molecular Sciences|November 11, 2022
Exploration of Tools for the Interpretation of Human Non-Coding VariantsNicole Tabarini, Elena Biagi, Paolo Uva, et al.
Frontiers in Pharmacology|December 24, 2021
Beneficial Effect of Phenytoin and Carbamazepine on <i>GFAP</i> Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's DiseaseTiziana Bachetti, Eleonora Di Zanni, Annalisa Adamo, et al.
Clinical Immunology (Orlando, Fla.)|May 17, 2019
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung diseaseCarlo Pietrasanta, Francesca Minoia, Sofia Torreggiani, et al.
Genes|February 27, 2026
ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across AgesGiulia Amico, Mariasavina Severino, Marta Bertamino, et al.
American Journal of Respiratory and Critical Care Medicine|June 10, 2006
Brainstem anomalies in two patients affected by congenital central hypoventilation syndromeTiziana Bachetti, Angela Robbiano, Sara Parodi, et al.
Pageof 18