Michel Fardeau

Research.com Recognitions

• 1995 - Member of Academia Europaea

Overview

Best Publications

• 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

• A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

  Patrick Vicart;Patrick Vicart;Anne Caron;Pascale Guicheney;Zhenlin Li;Zhenlin Li

  1283
  Citations

• Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

  Isabelle Richard;Odile Broux;Valéerie Allamand;Françoise Fougerousse

  1177
  Citations

• Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

  Jing Liu;Masashi Aoki;Isabel Illa;Chenyan Wu

  1133
  Citations

• Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

  Brais B;Bouchard Jp;Xie Yg;Rochefort Dl

  947
  Citations

• Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

  A Helbling-Leclerc;X Zhang;H Topaloglu;C Cruaud

  744
  Citations

• Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

  Steven L. Roberds;Valérie Allamand;Federica Piccolo

  656
  Citations

• β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

  Leland E. Lim;Franck Duclos;Odile Broux;Nathalie Bourg

  651
  Citations

• Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

  Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown

  580
  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

• Congenital muscular dystrophy with merosin deficiency.

  F. M. S. Tome;T. Evangelista;A. Leclerc;Y. Sunada

  565
  Citations

• Gene for Chronic Proximal Spinal Muscular Atrophies Maps To Chromosome-5q

  J. Melki;S. Abdelhak;Peter Sheth;M. F. Bachelot

  495
  Citations

• Mutations in dynamin 2 cause dominant centronuclear myopathy.

  Marc Bitoun;Svetlana Maugenre;Pierre-Yves Jeannet;Emmanuelle Lacène

  485
  Citations

• Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

  Ana Ferreiro;Susana Quijano-Roy;Claire Pichereau;Behzad Moghadaszadeh

  440
  Citations

• COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

  Emmanuelle Plaisier;Olivier Gribouval;Sonia Alamowitch;Béatrice Mougenot

  438
  Citations

• Expression of matrix metalloproteinases 2 and 9 in regenerating skeletal muscle: a study in experimentally injured and mdx muscles.

  Sonia Kherif;Chantal Lafuma;Michèle Dehaupas;Sylvie Lachkar

  435
  Citations

• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

  Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry

  358
  Citations

• Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

  S. Baghdiguian;M. Martin;I. Richard;F. Pons

  356
  Citations

• Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.

  Tejvir S. Khurana;Tejvir S. Khurana;Simon C. Watkins;Philippe Chafey;Jamel Chelly

  346
  Citations

• Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

  Kiichiro Matsumura;Fernando M. S. Tomé;Huguette Collin;Kemal Azibi

  333
  Citations