• Publications
  • Influence
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients
Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children. Historically, DMD results in loss of ambulation between ages 7 and 13 years and death in the teens or 20s. In order toExpand
  • 198
  • 9
Usefulness of heart rate variability as a predictor of sudden cardiac death in muscular dystrophies.
Sudden cardiac death, or cardiac arrest, is a major health problem, causing about 166,200 deaths each year among adults in the United States. It may be caused by almost all known heart diseases. MostExpand
  • 40
  • 2
Cardiac involvement in patients with Spinal Muscular Atrophies
The spinal muscular atrophies (SMAs) include a group of disorders characterized by progressive weakness of the lower motor neurons. Several types of SMAs have been described based on age onset ofExpand
  • 28
  • 2
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene
Becker muscular dystrophy (BMD) was first described in 1953 by Emile Becker as a benign variant of Duchenne muscular Dystrophy (DMD). Compared with DMD, BMD is clinically more heterogeneous, withExpand
  • 30
  • 2
  • PDF
Risk of Arrhythmias in MYotonic Dystrophy: trial design of the RAMYD study
Objective Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy in adults. DM1 is a multisystem disorder also affecting the heart with an increased incidence of sudden death, whichExpand
  • 40
  • 1
P-12 Becker patients with isolated deletion of exon 48 in dystrophin gene present with a mild phenotype and seem to escape cardiomyopathy
Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate ofExpand
  • 1
  • 1
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy.
BACKGROUND The development of malignant ventricular arrhythmias is a possible feature in Emery-Dreifuss muscular dystrophy (EDMD) patients with normal left ventricular systolic function. This eventExpand
  • 34
Right atrial preference pacing algorithm in the prevention of paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: a long term follow-up study
Atrial Preference Pacing (APP) is a pacemaker (PM) algorithm that works by increasing the atrial pacing rate to achieve continuous suppression of a spontaneous atrial rhythm and preventExpand
  • 23
Atrial fibrillation burden in Myotonic Dystrophy type 1 patients implanted with dual chamber pacemaker: the efficacy of the overdrive atrial algorithm at 2 year follow-up
The role that atrial pacing therapy plays on the atrial fibrillation (AF) burden is still unclear. Aim of the study was to evaluate the effect of the atrial preference pacing algorithm on AF burdenExpand
  • 21
ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies.
Muscular dystrophy (MD) connotes a heterogeneous group of inherited disordersaffecting skeletal and cardiac muscle. Inseveral forms of MD, the cardiac disease may be the predominant manifestationofExpand
  • 14
  • PDF