Valérie Allamand

Summary

Country: France

Publications

  1. ncbi request reprint Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)
    Valérie Allamand
    INSERM U523, Institut de Myologie Bâtiment Joseph Babinski, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Eur J Hum Genet 10:91-4. 2002
  2. pmc A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy
    Valérie Allamand
    Institut National de la Sante et de la Recherche Medicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitie Salpetriere, Paris, France
    EMBO Rep 7:450-4. 2006
  3. ncbi request reprint Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene
    Sylvie Besse
    INSERM U523, Institut de Myologie, IFR Coeur Muscle et Vaisseaux no 14, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
    Neuromuscul Disord 13:216-22. 2003
  4. doi request reprint Early onset collagen VI myopathies: Genetic and clinical correlations
    Laura Brinas
    INSERM, U582, Paris, France
    Ann Neurol 68:511-20. 2010
  5. pmc Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors
    Perrine Castets
    INSERM, U582, F 75013 Paris, France
    BMC Dev Biol 9:46. 2009
  6. ncbi request reprint Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes
    Valérie Allamand
    INSERM, U582, Paris, France
    J Gene Med 10:217-24. 2008
  7. pmc Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
    Ercan Demir
    INSERM U 523, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Am J Hum Genet 70:1446-58. 2002
  8. pmc ColVI myopathies: where do we stand, where do we go?
    Valérie Allamand
    INSERM, U974, Paris, France
    Skelet Muscle 1:30. 2011
  9. doi request reprint Sense from nonsense: therapies for premature stop codon diseases
    Laure Bidou
    Universite Paris Sud, Orsay, France
    Trends Mol Med 18:679-88. 2012

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)
    Valérie Allamand
    INSERM U523, Institut de Myologie Bâtiment Joseph Babinski, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Eur J Hum Genet 10:91-4. 2002
    ..A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes...
  2. pmc A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy
    Valérie Allamand
    Institut National de la Sante et de la Recherche Medicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitie Salpetriere, Paris, France
    EMBO Rep 7:450-4. 2006
    ..The identification of this mutation affecting a conserved base in the SECIS functional motif thereby reveals the structural basis for a novel pathological mechanism leading to SEPN1-related myopathy...
  3. ncbi request reprint Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene
    Sylvie Besse
    INSERM U523, Institut de Myologie, IFR Coeur Muscle et Vaisseaux no 14, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
    Neuromuscul Disord 13:216-22. 2003
    ..The dy(Pas)/dy(Pas) mouse is thus the first spontaneous mutant with a complete laminin alpha2 chain deficiency in which the mutation has been identified...
  4. doi request reprint Early onset collagen VI myopathies: Genetic and clinical correlations
    Laura Brinas
    INSERM, U582, Paris, France
    Ann Neurol 68:511-20. 2010
    ..We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations...
  5. pmc Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors
    Perrine Castets
    INSERM, U582, F 75013 Paris, France
    BMC Dev Biol 9:46. 2009
    ..Using qRT-PCR, Western blot and whole mount in situ hybridization, we characterized in detail the spatio-temporal expression pattern of the murine Sepn1 gene during development, focusing particularly on skeletal muscles...
  6. ncbi request reprint Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes
    Valérie Allamand
    INSERM, U582, Paris, France
    J Gene Med 10:217-24. 2008
    ..A promising approach for the treatment of genetic disorders due to premature termination codons (PTCs) is the use of drugs to force stop codon readthrough...
  7. pmc Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
    Ercan Demir
    INSERM U 523, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
    Am J Hum Genet 70:1446-58. 2002
    ..Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency...
  8. pmc ColVI myopathies: where do we stand, where do we go?
    Valérie Allamand
    INSERM, U974, Paris, France
    Skelet Muscle 1:30. 2011
    ..In particular, mitochondrial dysfunction and a defect in the autophagic clearance system of skeletal muscle have recently been reported, thereby opening potential therapeutic avenues...
  9. doi request reprint Sense from nonsense: therapies for premature stop codon diseases
    Laure Bidou
    Universite Paris Sud, Orsay, France
    Trends Mol Med 18:679-88. 2012
    ..Here, we review the molecular basis for PTC readthrough in eukaryotes and describe currently available compounds with significant therapeutic potential for treating genetic disorders and cancer...