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Genetics

D-Index
63
Citations
14755
World Ranking
2887
National Ranking
136

Overview

Isabelle Richard is affiliated with the Centre national de la recherche scientifique (CNRS) in France. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a focus on Medicine. Within these broader areas, the scientist has contributed extensively to subfields including Molecular Biology, Genetics, Cellular and Molecular Neuroscience, Cardiology and Cardiovascular Medicine, and Physiology.

The research topics associated with Isabelle Richard emphasize Muscle Physiology and Disorders, Virus-based gene therapy research, and Genetic Neurodegenerative Diseases. Other notable topics include Cardiomyopathy and Myosin Studies, CRISPR and Genetic Engineering, RNA Research and Splicing, as well as Adipose Tissue and Metabolism.

Recent publications exemplify the diversity and depth of their work. These include:

  • New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy, 2020, Brain
  • Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy, 2021, Journal of Cachexia Sarcopenia and Muscle
  • Making sense of missense variants in TTN-related congenital myopathies, 2021, Acta Neuropathologica
  • Calpains for dummies: What you need to know about the calpain family, 2021, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
  • miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy, 2020, Scientific Reports

Isabelle Richard has frequently published in several venues, with multiple contributions to Neuromuscular Disorders, bioRxiv (Cold Spring Harbor Laboratory), and the International Journal of Molecular Sciences. Additional publication venues include médecine/sciences and Scientific Reports.

The scientist has collaborated often with a group of coauthors, highlighting a network of ongoing partnerships. Frequent collaborators include Ai Vu Hong, David Israeli, Nathalie Bourg, Sonia Albini, and Evelyne Gicquel, indicating a consistent research team presence over time.

Best Publications

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

    Isabelle Richard;Odile Broux;Valéerie Allamand;Françoise Fougerousse

  • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

    R Bashir;S Britton;T Strachan;S Keers

  • The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

    Stephan Lange;Fengqing Xiang;Andrey Yakovenko;Anna Vihola

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

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

  • Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

    Peter Hackman;Anna Vihola;Henna Haravuori;Sylvie Marchand

  • 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

  • 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

  • Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

    Véronique Bolduc;Gareth Marlow;Kym M. Boycott;Khalil Saleki

  • Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle

    L. Féasson;D. Stockholm;D. Freyssenet;I. Richard

  • Calpains in muscle wasting.

    Marc Bartoli;Isabelle Richard

  • C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

    Virginie Carmignac;Virginie Carmignac;Mustafa A. M. Salih;Susana Quijano-Roy;Susana Quijano-Roy;Sylvie Marchand

  • A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.

    Beckmann Js;Richard I;Hillaire D;Broux O

  • Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

    M. Fardeau;D. Hillaire;C. Mignard;N. Feingold

  • Calpainopathy—A Survey of Mutations and Polymorphisms

    I. Richard;C. Roudaut;A. Saenz;R. Pogue

  • Loss of Calpain 3 Proteolytic Activity Leads to Muscular Dystrophy and to Apoptosis-Associated Iκbα/Nuclear Factor κb Pathway Perturbation in Mice

    Isabelle Richard;Carinne Roudaut;Sylvie Marchand;Stephen Baghdiguian

  • Functional Defects of a Muscle-specific Calpain, p94, Caused by Mutations Associated with Limb-Girdle Muscular Dystrophy Type 2A

    Yasuko Ono;Hiroko Shimada;Hiroyuki Sorimachi;Isabelle Richard

  • Secondary calpain3 deficiency in 2q-linked muscular dystrophy Titin is the candidate gene

    H. Haravuori;A. Vihola;V. Straub;M. Auranen

  • Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

    M Urtasun;A Sáenz;C Roudaut;J J Poza

  • Human–mouse differences in the embryonic expression patterns of developmental control genes and disease genes

    Francoise Fougerousse;Philip Bullen;Muriel Herasse;Susan Lindsay

  • Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components.

    Mathieu Taveau;Nathalie Bourg;Guillaume Sillon;Carinne Roudaut

Frequent Co-Authors

Jacques S. Beckmann
Jacques S. Beckmann University of Lausanne
Bjarne Udd
Bjarne Udd University of Helsinki
Bruno Eymard
Bruno Eymard Université Paris Cité
Gérard Lefranc
Gérard Lefranc University of Montpellier
Nicolas Lévy
Nicolas Lévy Aix-Marseille University
Michel Fardeau
Michel Fardeau Grenoble Alpes University
Olivier Danos
Olivier Danos REGENXBIO Inc.
Thomas Voit
Thomas Voit University College London
Kevin P. Campbell
Kevin P. Campbell University of Iowa
Paul L. McNeil
Paul L. McNeil Augusta University

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