Search Results - "Benabides, Manon"

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    Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III by Rossiaud, Lucille, Pellier, Emilie, Benabides, Manon, Nissan, Xavier, Ronzitti, Giuseppe, Hoch, Lucile

    Published in Stem cell research (01-10-2023)
    “…Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder characterized by a deficiency of glycogen debranching enzyme (GDE) leading to…”
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    Journal Article
  2. 2

    Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation by Hoch, Lucile, Henriques, Sara F., Bruge, Celine, Marsolier, Justine, Benabides, Manon, Bourg, Nathalie, Tournois, Johana, Mahé, Gurvan, Morizur, Lise, Jarrige, Margot, Bigot, Anne, Richard, Isabelle, Nissan, Xavier

    Published in Scientific reports (06-05-2019)
    “…Limb-girdle muscular dystrophy type 2D (LGMD2D) is characterized by a progressive proximal muscle weakness. LGMD2D is caused by mutations in the gene encoding…”
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    Journal Article
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    Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies by Bruge, Celine, Geoffroy, Marine, Benabides, Manon, Pellier, Emilie, Gicquel, Evelyne, Dhiab, Jamila, Hoch, Lucile, Richard, Isabelle, Nissan, Xavier

    Published in Biomedicines (16-06-2022)
    “…Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although…”
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    Journal Article
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