Patrizia Sabatelli

Overview

Best Publications

• Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration

  Paolo Grumati;Luisa Coletto;Patrizia Sabatelli;Matilde Cescon

  565
  Citations

• Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency

  William A Irwin;Natascha Bergamin;Patrizia Sabatelli;Carlo Reggiani

  563
  Citations

• POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

  J. van Reeuwijk;M. Janssen;C. van der Elzen;D. Beltran Valero de Bernabe

  466
  Citations

• Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

  Olga Camacho Vanegas;Enrico Bertini;Rui Zhu Zhang;Stefania Petrini

  357
  Citations

• Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

  Luciano Merlini;Alessia Angelin;Tania Tiepolo;Paola Braghetta

  249
  Citations

• EMILIN-1 Deficiency Induces Elastogenesis and Vascular Cell Defects

  Miriam Zanetti;Paola Braghetta;Patrizia Sabatelli;Isabella Mura

  226
  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

• Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

  Ercan Demir;Patrizia Sabatelli;Valérie Allamand;Ana Ferreiro

  202
  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

• Heart-Specific Localization of Emerin: New Insights Into Emery-Dreifuss Muscular Dystrophy

  Luca Cartegni;Marina Raffaele di Barletta;Rita Barresi;Stefano Squarzoni

  163
  Citations

• Emilin1 deficiency causes structural and functional defects of lymphatic vasculature

  Carla Danussi;Paola Spessotto;Alessandra Petrucco;Bruna Wassermann

  159
  Citations

• Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

  Yaqun Zou;Rui Zhu Zhang;Patrizia Sabatelli;Mon Li Chu

  149
  Citations

• Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts.

  Patrizia Sabatelli;Paolo Bonaldo;Giovanna Lattanzi;Paola Braghetta

  147
  Citations

• Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice

  Elena Palma;Tania Tiepolo;Alessia Angelin;Patrizia Sabatelli

  143
  Citations

• Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

  Luciano Merlini;Elena Martoni;P Grumati;Patrizia Sabatelli

  141
  Citations

• Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

  Ilaria Filesi;Francesca Gullotta;Giovanna Lattanzi;Maria Rosaria D'Apice

  139
  Citations

• The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.

  T Tiepolo;A Angelin;E. Palma;P Sabatelli

  137
  Citations

• The 180-kDa isoform of topoisomerase II is localized in the nucleolus and belongs to the structural elements of the nucleolar remnant

  Nicoletta Zini;Alberto M. Martelli;Patrizia Sabatelli;Spartaco Santi

  134
  Citations

• Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.

  A. Ognibene;P. Sabatelli;S. Petrini;S. Squarzoni

  116
  Citations