Luciano Merlini

Overview

Best Publications

• Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

  Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  8488
  Citations

• Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

  Gisèle Bonne;M R Di Barletta;S Varnous;H M Bécane

  1627
  Citations

• Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

  Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  895
  Citations

• Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

  Daniel Beltrán Valero De Bernabé;Sophie Currier;Alice Steinbrecher;Jacopo Celli

  802
  Citations

• Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

  Giuseppe Novelli;Antoine Muchir;Federica Sangiuolo;Anne Helbling-Leclerc

  628
  Citations

• Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

  Bonne G;Mercuri E;Muchir A;Urtizberea A

  570
  Citations

• 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

• Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

  Marina Raffaele di Barletta;Enzo Ricci;Giuliana Galluzzi;Pietro Tonali

  505
  Citations

• Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

  Cheryl Longman;Martin Brockington;Silvia Torelli;Cecilia Jimenez-Mallebrera

  490
  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

• Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

  Christian Windpassinger;Michaela Auer-Grumbach;Joy Irobi;Heema Patel

  445
  Citations

• Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

  Behzad Moghadaszadeh;Nathalie Petit;Céline Jaillard;Martin Brockington

  389
  Citations

• Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

  Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  287
  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

• Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

  F. Piccolo;S.L. Roberds;M. Jeanpierre;F. Leturcq

  248
  Citations

• Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

  M. Gennarelli;M. Lucarelli;F. Capon;A. Pizzuti

  242
  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

• Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

  Eugenio Mercuri;Beril Talim;Behzad Moghadaszadeh;Nathalie Petit

  215
  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