Cargando…

Advances in muscle imaging for Emery-Dreifuss muscular dystrophy

Detalles Bibliográficos
Autor principal:	Carboni, Nicola
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Oral Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652483/ http://dx.doi.org/10.1186/1750-1172-10-S2-O26

Ejemplares similares

FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy
por: Ziat, Esma, et al.
Publicado: (2015)

Emery‐Dreifuss muscular dystrophy
por: Heller, Scott A., et al.
Publicado: (2019)

Clinical aspects of Emery-Dreifuss muscular dystrophy
por: Madej-Pilarczyk, Agnieszka
Publicado: (2018)

An Omics View of Emery–Dreifuss Muscular Dystrophy
por: Vignier, Nicolas, et al.
Publicado: (2020)

Impairment of Lamin A/C-Polycomb crosstalk as a possible epigenetic cause of Emery Dreifuss Muscular Dystrophy (EDMD)
por: Lanzuolo, Chiara
Publicado: (2015)

Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy
por: Fayssoil, Abdallah
Publicado: (2018)

Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy
por: Mattioli, Elisabetta, et al.
Publicado: (2018)

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
por: Marchel, Michał, et al.
Publicado: (2021)

Increased dispersion of ventricular repolarization in emery dreifuss muscular dystrophy patients
por: Russo, Vincenzo, et al.
Publicado: (2012)

Emery–Dreifuss muscular dystrophy: a test case for precision medicine
por: Pillers, De-Ann M, et al.
Publicado: (2016)

Atrial arrhythmias in Emery-Dreifuss muscular dystrophy: Approach to successful ablation
por: Butt, Khurram, et al.
Publicado: (2020)

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy
por: Sato, Megumi, et al.
Publicado: (2016)

Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy
por: Chiba, Yasuyuki, et al.
Publicado: (2020)

Novel candidate alleles associated with gene regulation for Emery–Dreifuss muscular dystrophy
por: Xiong, Hui
Publicado: (2020)

Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype
por: Pegoli, Gloria, et al.
Publicado: (2021)

Uncoordinated Transcription and Compromised Muscle Function in the Lmna-Null Mouse Model of Emery-Dreifuss Muscular Dystrophy
por: Gnocchi, Viola F., et al.
Publicado: (2011)

Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy
por: Méjat, Alexandre, et al.
Publicado: (2009)

Possible local anesthetic resistance in Emery–Dreifuss muscular dystrophy during regional anesthesia
por: Kim, Alexander J, et al.
Publicado: (2017)

Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B
por: Hong, Jong-Seo, et al.
Publicado: (2005)

Net39 protects muscle nuclei from mechanical stress during the pathogenesis of Emery-Dreifuss muscular dystrophy
por: Zhang, Yichi, et al.
Publicado: (2023)

Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
por: Ahmadifard, Azadeh, et al.
Publicado: (2016)

Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy
por: Vignier, Nicolas, et al.
Publicado: (2019)

Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
por: Kovalchuk, Tatiana, et al.
Publicado: (2021)

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient
por: Perepelina, Kseniya, et al.
Publicado: (2022)

X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers
por: Viggiano, Emanuela, et al.
Publicado: (2019)

A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
por: Dai, Xiafei, et al.
Publicado: (2020)

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy
por: Song, Danyu, et al.
Publicado: (2021)

Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy
por: Borch, Josefine d. S., et al.
Publicado: (2022)

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series
por: Kashyap, Niharika, et al.
Publicado: (2023)

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes
por: Bernasconi, Pia, et al.
Publicado: (2018)

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy
por: Bertrand, Anne T., et al.
Publicado: (2020)

Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy
por: ZHANG, LI, et al.
Publicado: (2015)

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases
por: Nelson, Isabelle, et al.
Publicado: (2015)

In Vitro Contracture Test Results and Anaesthetic Management of a Patient with Emery-Dreifuss Muscular Dystrophy for Cardiac Transplantation
por: Schuster, Frank, et al.
Publicado: (2012)

Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature
por: Ekabe, Cyril Jabea, et al.
Publicado: (2017)

Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous
por: Bianchi, Andrea, et al.
Publicado: (2018)

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
por: Chen, Zuzhi, et al.
Publicado: (2017)

Clinical Profile, Arrhythmias, and Adverse Cardiac Outcomes in Emery–Dreifuss Muscular Dystrophies: A Systematic Review of the Literature
por: Valenti, Anna Chiara, et al.
Publicado: (2022)

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees
por: de las Heras, Jose I, et al.
Publicado: (2022)

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy
por: Xie, Yanshu, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_kecch7oku36g5p7tkfhq3pgts8