Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]
, 2016 Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F +9 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann +6 more
wiley +1 more source
Shox2: The Role in Differentiation and Development of Cardiac Conduction System.
Tohoku journal of experimental medicine, 2018 The formation and conduction of electrocardiosignals and the synchronous contraction of atria and ventricles with rhythmicity are both triggered and regulated by the cardiac conduction system (CCS).
Wenyu Hu +3 more
semanticscholar +1 more source
Development of the cardiac pacemaking and conduction system [PDF]
Birth Defects Research Part C: Embryo Today: Reviews, 2003 AbstractThe heartbeat is initiated and coordinated by a heterogeneous set of tissues, collectively referred to as the pacemaking and conduction system (PCS). While the structural and physiological properties of these specialized tissues has been studied for more than a century, distinct new insights have emerged in recent years.
Robert G, Gourdie +7 more
openaire +2 more sources
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
First-degree Atrioventricular Block as an Early Marker of Advanced Disease of the Conduction System in a Patient with Hereditary Val142Ile Cardiac Amyloidosis [PDF]
, 2022 Nágela Simão Vinhosa Nunes +3 more
openalex +1 more source
Prolonged PR interval, first-degree heart block and adverse cardiovascular outcomes: a systematic review and meta-analysis [PDF]
, 2016 Objective: First-degree atrioventricular block is frequently encountered in clinical practice and is generally considered a benign process. However, there is emerging evidence that prolonged PR interval may be associated with adverse outcomes. This study
Barker, Diane +11 more
core +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
Direct Reprograming to Regenerate Myocardium and Repair Its Pacemaker and Conduction System
Medicines, 2018 The regenerative medicine field has been revolutionized by the direct conversion of one cell type to another by ectopic expression of lineage-specific transcription factors.
Saritha Adepu +3 more
doaj +1 more source
TRANSCRIPTIONAL REGULATION OF THE CARDIAC CONDUCTION SYSTEM.
Trans Am Clin Climatol Assoc, 2020 Fishman GI.
europepmc +2 more sources