30(top 2%)
papers
574(top 2%)
citations
12(top 2%)
h-index
24(top 2%)
g-index
32
all documents
606
doc citations
273
citing journals

Top Articles

#TitleJournalYearCitations
1Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patientsActa Myologica2012221
2Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophyHuman Genetics201656
3Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal seriesIntractable and Rare Diseases Research201741
4Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal resultsActa Myologica201235
5The Role of the Atrial Electromechanical Delay in Predicting Atrial Fibrillation in Myotonic Dystrophy Type 1 PatientsJournal of Cardiovascular Electrophysiology201632
6Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophyJournal of Cellular and Molecular Medicine201825
7Cardiac involvement in patients with spinal muscular atrophiesActa Myologica201125
8Cardiac and muscle imaging findings in a family with X-linked Emery–Dreifuss muscular dystrophyNeuromuscular Disorders201219
9Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variantsClinical Genetics201818
10Atrial fibrillation burden in Myotonic Dystrophy type 1 patients implanted with dual chamber pacemaker: the efficacy of the overdrive atrial algorithm at 2 year follow-upActa Myologica201318
11Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular functionMolecular Reproduction and Development202014
12Prevalence and clinical outcomes of dystrophin‐associated dilated cardiomyopathy without severe skeletal myopathyEuropean Journal of Heart Failure202114
13Far field R-wave sensing in Myotonic Dystrophy type 1: right atrial appendage versus Bachmann's bundle region lead placementActa Myologica201411
14Molecular evidence of apoptotic pathway activation in semen samples with high DNA fragmentationIn Vivo201511
15Clarification on Uveal Melanoma Associated With Myotonic DystrophyJAMA Ophthalmology201810
16On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathyActa Myologica201210
17Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic reviewNeuromuscular Disorders20218
18Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal resultsActa Myologica20197
19North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow upPLoS ONE20216
20Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case reportActa Myologica20186
21Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-upActa Myologica20185
22P3.8 Cardiac involvement in patients with spinal muscular atrophiesNeuromuscular Disorders20113
23SERUM cardiac‐specific biomarkers and atrial fibrillation in myotonic dystrophy type IJournal of Cardiovascular Electrophysiology20193
24Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?Journal of Neuromuscular Diseases20213
25Muscle MRI in female carriers of emerinopathyEuropean Journal of Neurology20131
26Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary resultsActa Myologica20171
27Unmet needs on the management of COVID-19 vaccination in patients with neuromuscular disordersActa Myologica20211
28Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up.Acta Myologica20211
29P2.40 Double trouble: Resulting phenotype in a young patient with facio-scapulo-humeral dystrophy and Williams–Beuren syndromeNeuromuscular Disorders20110
30Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatmentActa Myologica20180
31Females with dystrophinopathy: A neglected patient populationDevelopmental Medicine and Child Neurology20230