Tavola Rotonda Hands4Rare Padova | 27 Febbraio 2022

| Terapia Farmacologica

intervento della Dott.ssa Sandonà alla Tavola rotonda dell'evento hands4rare a Padova il 27 febbraio 2022 dal minuto 16.25 al minuto 28.20



Conferenza Internazionale LGMD 2021

| Terapia Farmacologica

Intervento della Dott.ssa Sandonà alla Conferenza Internazionale LGMD 2021 il giorno 20 settembre dal minuto 1.36.40 al minuto 2.00.10


Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery

| Terapia Farmacologica

Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D

| Terapia Farmacologica

Hum Mol Genet . 2018 Mar 15;27(6):969-984. doi: 10.1093/hmg/ddy013.

Marcello Carotti 1, Justine Marsolier 2 3, Michela Soardi 1, Elisa Bianchini 1 4, Chiara Gomiero 5, Chiara Fecchio 1, Sara F Henriques 2 3, Romeo Betto 6, Roberta Sacchetto 5, Isabelle Richard 2 3, Dorianna Sandonà 1

Affiliations expand
PMID: 29351619 PMCID: PMC5886177 DOI: 10.1093/hmg/ddy013
Free PMC article

Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D

| Terapia Farmacologica

Hum Mol Genet. 2014 Jul 15;23(14):3746-58. doi: 10.1093/hmg/ddu088. Epub 2014 Feb 23.

Elisa Bianchini 1, Marina Fanin 2, Kamel Mamchaoui 3, Romeo Betto 4, Dorianna Sandonà 5

Affiliations expand
PMID: 24565866 PMCID: PMC4065151 DOI: 10.1093/hmg/ddu088
Free PMC article

Primo convegno Nazionale GFB Milano | 19 Aprile 2013

| Terapia Farmacologica

Intervento della Dott.ssa Sandonà al primo convegno nazionale di GFB a Milano il 19 aprile 2013



Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

| Terapia Farmacologica

Expert Rev Mol Med . 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203.

Sandonà D, Betto R.
Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203.
PMID: 19781108 Free PMC article. Review.

Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused by genetic
defects in one of four cell membrane glycoproteins, alpha-, beta-, gamma- or delta-sarcoglycan. ...This
review summarises the etiopathogenesis of sarcoglycanopathies …


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