Alessandra Ferlini

Overview

Best Publications

• Dystrophin and mutations: one gene, several proteins, multiple phenotypes

  Francesco Muntoni;Silvia Torelli;Alessandra Ferlini

  1347
  Citations

• Systemic Cardiac Amyloidoses Disease Profiles and Clinical Courses of the 3 Main Types

  Claudio Rapezzi;Giampaolo Merlini;Candida C. Quarta;Letizia Riva

  826
  Citations

• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

  M De Gregori;R Ciccone;P Magini;T Pramparo

  337
  Citations

• Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.

  Claudio Rapezzi;Candida Cristina Quarta;Laura Obici;Federico Perfetto

  324
  Citations

• Duchenne Muscular Dystrophy: From Diagnosis to Therapy

  Maria Sofia Falzarano;Chiara Scotton;Chiara Passarelli;Alessandra Ferlini

  291
  Citations

• Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy

  Claudio Rapezzi;Candida Cristina Quarta;Pier Luigi Guidalotti;Simone Longhi

  236
  Citations

• Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins

  Alessia Angelin;Tania Tiepolo;Patrizia Sabatelli;Paolo Grumati

  223
  Citations

• Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

  Marcella Neri;Marcella Neri;Silvia Torelli;Sue Brown;Isabella Ugo

  213
  Citations

• A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

  Arunkanth Ankala;Cristina da Silva;Francesca Gualandi;Alessandra Ferlini

  174
  Citations

• Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation

  Marika Pane;Maria Elena Lombardo;Maria Elena Lombardo;Paolo Alfieri;Adele D'Amico

  172
  Citations

• Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

  Karen Anthony;Sebahattin Cirak;Silvia Torelli;Giorgio Tasca

  170
  Citations

• Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model

  Hans Heemskerk;Christa De Winter;Petra Van Kuik;Niki Heuvelmans

  170
  Citations

• Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

  Zaïda Koeks;Catherine L. Bladen;David Salgado;Erik van Zwet

  148
  Citations

• Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

  Luciano Merlini;Elena Martoni;P Grumati;Patrizia Sabatelli

  141
  Citations

• A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

  Isabella Fogh;Antonia Ratti;Cinzia Gellera;Kuang Lin

  136
  Citations

• Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies

  Agnese Milandri;Andrea Farioli;Christian Gagliardi;Simone Longhi

  132
  Citations

• Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

  Burcu Ayoglu;Amina Chaouch;Hanns Lochmüller;Luisa Politano

  129
  Citations

• Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

  Nicolas Wein;Adeline Vulin;Maria S. Falzarano;Christina Al Khalili Szigyarto

  128
  Citations

• A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

  Alessandra Ferlini;Nazzareno Galié;Luciano Merlini;Caroline Sewry;Caroline Sewry

  121
  Citations

• Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

  Anthonie J. van Essen;Stephen Abbs;Montserrat Baiget;Egbert Bakker

  119
  Citations