Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Francesca Gualandi

Showing results (151-160 of 169) with videos related to

Pageof 17
Sort By:
Nature Medicine|August 11, 2014
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceNicolas Wein, Adeline Vulin, Maria S Falzarano, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|November 9, 2023
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG patternLaura Tonelli, Cristina Balla, Marianna Farnè, et al.
JAMA Neurology|February 28, 2017
Long-term Outcomes After Autologous Hematopoietic Stem Cell Transplantation for Multiple SclerosisPaolo A Muraro, Marcelo Pasquini, Harold L Atkins, et al.
Blood|May 21, 2011
Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working PartyThomas Daikeler, Myriam Labopin, Massimo Di Gioia, et al.
Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.
The Journal of Clinical Investigation|December 8, 2015
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingRoland F R Schindler, Chiara Scotton, Jianguo Zhang, et al.
Biomolecules|October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide ReportFernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Neurology|June 30, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyLuca Bello, Luisa Piva, Andrea Barp, et al.
European Journal of Human Genetics : EJHG|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patientsMarco Fabiani, Caterina Micolonghi, Silvia Caroselli, et al.
Pageof 17

Showing results (151-160 of 169) with videos related to

Sort By:
Pageof 17
Nature Medicine|August 11, 2014
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and miceNicolas Wein, Adeline Vulin, Maria S Falzarano, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|November 9, 2023
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG patternLaura Tonelli, Cristina Balla, Marianna Farnè, et al.
JAMA Neurology|February 28, 2017
Long-term Outcomes After Autologous Hematopoietic Stem Cell Transplantation for Multiple SclerosisPaolo A Muraro, Marcelo Pasquini, Harold L Atkins, et al.
Blood|May 21, 2011
Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working PartyThomas Daikeler, Myriam Labopin, Massimo Di Gioia, et al.
Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.
The Journal of Clinical Investigation|December 8, 2015
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingRoland F R Schindler, Chiara Scotton, Jianguo Zhang, et al.
Biomolecules|October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide ReportFernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Neurology|June 30, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyLuca Bello, Luisa Piva, Andrea Barp, et al.
European Journal of Human Genetics : EJHG|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patientsMarco Fabiani, Caterina Micolonghi, Silvia Caroselli, et al.
Pageof 17