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Tiziana Bachetti

Showing results (21-30 of 84) with videos related to

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JIMD Reports|February 23, 2013
Ceftriaxone for Alexander's Disease: A Four-Year Follow-UpGianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, et al.
Human Molecular Genetics|May 13, 2005
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndromeTiziana Bachetti, Ivana Matera, Silvia Borghini, et al.
Experimental Cell Research|June 19, 2012
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander diseaseTiziana Bachetti, Eleonora Di Zanni, Pietro Balbi, et al.
Journal of Forensic and Legal Medicine|April 22, 2018
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B geneFrancesco Ventura, Rosario Barranco, Tiziana Bachetti, et al.
The International Journal of Biochemistry & Cell Biology|October 19, 2006
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansionsTiziana Bachetti, Paola Bocca, Silvia Borghini, et al.
Human Mutation|January 12, 2005
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionPaola Griseri, Tiziana Bachetti, Francesca Puppo, et al.
Pediatric Pulmonology|March 6, 2013
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicismTiziana Bachetti, Marco Di Duca, Matteo Della Monica, et al.
International Journal of Molecular Sciences|October 30, 2020
Treating Senescence like Cancer: Novel Perspectives in Senotherapy of Chronic DiseasesAlessia Mongelli, Sandra Atlante, Veronica Barbi, et al.
Cell Cycle (Georgetown, Tex.)|December 15, 2025
Beyond translation: systematic insight of the multifaceted roles of GARS1 in cellular biology and diseaseGabriela Coronel Vargas, Erika Iervasi, Kateryna Tkachenko, et al.
Human Mutation|September 21, 2006
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung diseasePaola Griseri, Francesca Lantieri, Francesca Puppo, et al.
Pageof 9

Showing results (21-30 of 84) with videos related to

Sort By:
Pageof 9
JIMD Reports|February 23, 2013
Ceftriaxone for Alexander's Disease: A Four-Year Follow-UpGianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, et al.
Human Molecular Genetics|May 13, 2005
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndromeTiziana Bachetti, Ivana Matera, Silvia Borghini, et al.
Experimental Cell Research|June 19, 2012
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander diseaseTiziana Bachetti, Eleonora Di Zanni, Pietro Balbi, et al.
Journal of Forensic and Legal Medicine|April 22, 2018
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B geneFrancesco Ventura, Rosario Barranco, Tiziana Bachetti, et al.
The International Journal of Biochemistry & Cell Biology|October 19, 2006
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansionsTiziana Bachetti, Paola Bocca, Silvia Borghini, et al.
Human Mutation|January 12, 2005
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionPaola Griseri, Tiziana Bachetti, Francesca Puppo, et al.
Pediatric Pulmonology|March 6, 2013
Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicismTiziana Bachetti, Marco Di Duca, Matteo Della Monica, et al.
International Journal of Molecular Sciences|October 30, 2020
Treating Senescence like Cancer: Novel Perspectives in Senotherapy of Chronic DiseasesAlessia Mongelli, Sandra Atlante, Veronica Barbi, et al.
Cell Cycle (Georgetown, Tex.)|December 15, 2025
Beyond translation: systematic insight of the multifaceted roles of GARS1 in cellular biology and diseaseGabriela Coronel Vargas, Erika Iervasi, Kateryna Tkachenko, et al.
Human Mutation|September 21, 2006
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung diseasePaola Griseri, Francesca Lantieri, Francesca Puppo, et al.
Pageof 9