CARSTEN G BONNEMANN

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. doi request reprint The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy
    CARSTEN G BONNEMANN
    Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892 3705, USA
    Handb Clin Neurol 101:81-96. 2011
  2. doi request reprint Diagnostic approach to the congenital muscular dystrophies
    CARSTEN G BONNEMANN
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States Electronic address
    Neuromuscul Disord 24:289-311. 2014
  3. pmc Genotype-phenotype correlations in recessive RYR1-related myopathies
    Kimberly Amburgey
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Orphanet J Rare Dis 8:117. 2013
  4. doi request reprint The collagen VI-related myopathies: muscle meets its matrix
    CARSTEN G BONNEMANN
    National Institutes of Health, PO Box 5801, Bethesda, MD 20824, USA
    Nat Rev Neurol 7:379-90. 2011
  5. pmc Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
    Tyler Mark Pierson
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA 20892 3705, USA
    Ann Neurol 64:583-7. 2008

Collaborators

Detail Information

Publications5

  1. doi request reprint The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy
    CARSTEN G BONNEMANN
    Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892 3705, USA
    Handb Clin Neurol 101:81-96. 2011
    ..A genetic spectrum is emerging, with BM being caused mostly by dominantly acting mutations, although rarely recessive inheritance of BM is also possible, whereas both dominantly as well as recessively acting mutations underlie UCMD...
  2. doi request reprint Diagnostic approach to the congenital muscular dystrophies
    CARSTEN G BONNEMANN
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States Electronic address
    Neuromuscul Disord 24:289-311. 2014
    ..It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis. ..
  3. pmc Genotype-phenotype correlations in recessive RYR1-related myopathies
    Kimberly Amburgey
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Orphanet J Rare Dis 8:117. 2013
    ..To date, no clear patterns have been identified in these recessive mutations, though no systematic examination has yet been performed...
  4. doi request reprint The collagen VI-related myopathies: muscle meets its matrix
    CARSTEN G BONNEMANN
    National Institutes of Health, PO Box 5801, Bethesda, MD 20824, USA
    Nat Rev Neurol 7:379-90. 2011
    ....
  5. pmc Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
    Tyler Mark Pierson
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA 20892 3705, USA
    Ann Neurol 64:583-7. 2008
    ..To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation...