Kristl G Claeys

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. doi request reprint Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
    Kristl G Claeys
    Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Paris, France
    Neuromuscul Disord 20:701-8. 2010
  2. doi request reprint Rigid spine syndrome revealing late-onset Pompe disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:128-30. 2010
  3. doi request reprint De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins
    Aurelio Hernández-Laín
    Institut de Myologie, Unité de Morphologie Neuromusculaire, Groupe Hospitalier Universitaire Pitié Salpêtrière, Paris F 75013, France
    Eur J Med Genet 54:29-33. 2011
  4. doi request reprint Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
    Kristl G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:293-307. 2009
  5. doi request reprint Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
    Claire Wary
    Institute of Myology, Paris, France
    Neuromuscul Disord 20:548-58. 2010
  6. doi request reprint Acute but transient neurological deterioration revealing adult polyglucosan body disease
    Ségolène Billot
    AP HP, Service de Neurologie, Hopital Avicenne, Bobigny, France
    J Neurol Sci 324:179-82. 2013
  7. pmc DNAJB2 expression in normal and diseased human and mouse skeletal muscle
    Kristl G Claeys
    Unité de Morphologie Neuromusculaire, and the Centre de Référence Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Paris, France
    Am J Pathol 176:2901-10. 2010
  8. doi request reprint "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
    Jorge A Bevilacqua
    INSERM, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:283-91. 2009

Collaborators

Detail Information

Publications8

  1. doi request reprint Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
    Kristl G Claeys
    Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Paris, France
    Neuromuscul Disord 20:701-8. 2010
    ..This myopathy should be included in the differential diagnosis of patients with exercise intolerance and myalgia...
  2. doi request reprint Rigid spine syndrome revealing late-onset Pompe disease
    Pascal Laforet
    Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
    Neuromuscul Disord 20:128-30. 2010
    ....
  3. doi request reprint De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins
    Aurelio Hernández-Laín
    Institut de Myologie, Unité de Morphologie Neuromusculaire, Groupe Hospitalier Universitaire Pitié Salpêtrière, Paris F 75013, France
    Eur J Med Genet 54:29-33. 2011
    ..The report enlarges the phenotypic spectrum of "core-rod myopathy" and highlights the morphological variability associated to special RYR1 mutations...
  4. doi request reprint Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
    Kristl G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:293-307. 2009
    ....
  5. doi request reprint Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
    Claire Wary
    Institute of Myology, Paris, France
    Neuromuscul Disord 20:548-58. 2010
    ..These non-invasive investigations provide new indices to quantify the progression of GSDIII...
  6. doi request reprint Acute but transient neurological deterioration revealing adult polyglucosan body disease
    Ségolène Billot
    AP HP, Service de Neurologie, Hopital Avicenne, Bobigny, France
    J Neurol Sci 324:179-82. 2013
    ..These findings emphasize the importance of searching GBE deficiency in patients presenting with a leukodystrophy and acute neurological symptoms mimicking a stroke, in the absence of cardiovascular risk factors...
  7. pmc DNAJB2 expression in normal and diseased human and mouse skeletal muscle
    Kristl G Claeys
    Unité de Morphologie Neuromusculaire, and the Centre de Référence Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, Paris, France
    Am J Pathol 176:2901-10. 2010
    ..Therefore, we propose a role for DNAJB2 in protein turnover processes in skeletal muscle...
  8. doi request reprint "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
    Jorge A Bevilacqua
    INSERM, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Acta Neuropathol 117:283-91. 2009
    ..Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. The presence of necklace fibers is useful as a marker to direct genetic analysis to MTM1 in CNM...