Cargando…

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

OBJECTIVE: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barp, Andrea, Bello, Luca, Politano, Luisa, Melacini, Paola, Calore, Chiara, Polo, Angela, Vianello, Sara, Sorarù, Gianni, Semplicini, Claudio, Pantic, Boris, Taglia, Antonella, Picillo, Ester, Magri, Francesca, Gorni, Ksenija, Messina, Sonia, Vita, Gian Luca, Vita, Giuseppe, Comi, Giacomo P., Ermani, Mario, Calvo, Vincenzo, Angelini, Corrado, Hoffman, Eric P., Pegoraro, Elena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626372/ https://www.ncbi.nlm.nih.gov/pubmed/26513582 http://dx.doi.org/10.1371/journal.pone.0141240

Ejemplares similares

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies
por: Bello, Luca, et al.
Publicado: (2016)

Muscle MRI and functional outcome measures in Becker muscular dystrophy
por: Barp, Andrea, et al.
Publicado: (2017)

Genetic modifiers of respiratory function in Duchenne muscular dystrophy
por: Bello, Luca, et al.
Publicado: (2020)

Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients
por: PASSAMANO, LUIGIA, et al.
Publicado: (2012)

Is it the right time for an infant screening for Duchenne muscular dystrophy?
por: Vita, Gian Luca, et al.
Publicado: (2020)

Genetic modifiers of upper limb function in Duchenne muscular dystrophy
por: Sabbatini, Daniele, et al.
Publicado: (2022)

The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys
por: Pane, Marika, et al.
Publicado: (2014)

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
por: Pane, Marika, et al.
Publicado: (2015)

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study
por: MAGLIANO, LORENZA, et al.
Publicado: (2014)

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy
por: Mazzone, Elena Stacy, et al.
Publicado: (2013)

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy
por: Coratti, Giorgia, et al.
Publicado: (2022)

Hippo signaling pathway is altered in Duchenne muscular dystrophy
por: Vita, Gian Luca, et al.
Publicado: (2018)

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
por: Brogna, Claudia, et al.
Publicado: (2019)

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy
por: Mazzone, Elena Stacy, et al.
Publicado: (2013)

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
por: Brogna, Claudia, et al.
Publicado: (2019)

Activation of NF-kB pathway in Duchenne muscular dystrophy: relation to age
por: MESSINA, S., et al.
Publicado: (2011)

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
por: Querin, Giorgia, et al.
Publicado: (2016)

Genetic counseling in Pompe disease
por: Taglia, Antonella, et al.
Publicado: (2011)

Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
por: Pane, Marika, et al.
Publicado: (2014)

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes
por: Pane, Marika, et al.
Publicado: (2015)

S2.1 Enzyme replacement therapy (ERT) in Glycogen Storage Disease Type II: the first treatment developed
por: Angelini, Corrado, et al.
Publicado: (2011)

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
por: Pane, Marika, et al.
Publicado: (2018)

Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance
por: Oreto, Lilia, et al.
Publicado: (2020)

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
por: Coratti, Giorgia, et al.
Publicado: (2021)

6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes
por: Pane, Marika, et al.
Publicado: (2014)

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype
por: Martone, J., et al.
Publicado: (2016)

A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy
por: Vita, Gian Luca, et al.
Publicado: (2021)

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy
por: Bello, Luca, et al.
Publicado: (2016)

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study
por: Mazzone, Elena S., et al.
Publicado: (2016)

On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
por: TAGLIA, ANTONELLA, et al.
Publicado: (2012)

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy
por: Mendell, Jerry R., et al.
Publicado: (2016)

Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies
por: Vio, Riccardo, et al.
Publicado: (2021)

Burden, professional support, and social network in families of children and young adults with muscular dystrophies
por: Magliano, Lorenza, et al.
Publicado: (2015)

Old and new therapeutic developments in steroid treatment in Duchenne muscular dystrophy
por: ANGELINI, CORRADO, et al.
Publicado: (2012)

Cardiac involvement in patients with Spinal Muscular Atrophies
por: Palladino, Alberto, et al.
Publicado: (2011)

The “Usual Suspects”: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy
por: Bello, Luca, et al.
Publicado: (2019)

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
por: Pizza, Antonella, et al.
Publicado: (2023)

“I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy
por: Magliano, Lorenza, et al.
Publicado: (2013)

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions
por: Politano, Luisa, et al.
Publicado: (2017)

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs
por: Lorenza, Magliano, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_lu993di13mm5mvn7frdf4kfc1m