CARSTEN G BONNEMANN

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. ncbi request reprint Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile
    C G Bonnemann
    Division of Genetics, Children s Hospital, Howard Hughes Medical Institute, USA
    Neuromuscul Disord 12:273-80. 2002
  2. ncbi request reprint Limb-girdle muscular dystrophy in childhood
    CARSTEN G BONNEMANN
    Division of Neurology and Neuromuscular Program, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Pediatr Ann 34:569-77. 2005
  3. ncbi request reprint Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle
    C G Bonnemann
    Division of Neurology, Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 34th Strteet and Civic Center Boulevard, Philadelphia, PA 19104, USA
    J Neurol Sci 206:71-8. 2003
  4. ncbi request reprint Myopathies resulting from mutations in sarcomeric proteins
    CARSTEN G BONNEMANN
    Division of Neurology and Pennsylvania Muscle Institute, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Neurol 17:529-37. 2004
  5. pmc Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Brain 132:452-64. 2009
  6. ncbi request reprint Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies
    CARSTEN G BONNEMANN
    Division of Neurology, The Children s Hospital of Philadelphia, PA 19104, USA
    Semin Pediatr Neurol 9:81-99. 2002
  7. pmc Autosomal recessive inheritance of classic Bethlem myopathy
    A Reghan Foley
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neuromuscul Disord 19:813-7. 2009
  8. pmc Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant
    Rui Zhu Zhang
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 285:10005-15. 2010
  9. doi request reprint Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy
    A Reghan Foley
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA
    Ann Neurol 69:206-11. 2011
  10. ncbi request reprint Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations
    Katherine G Meilleur
    From the National Institute of Nursing Research, Bethesda, Maryland KGM National Institute of Neurological Disorders and Stroke, Bethesda, Maryland KZ, Jd, yh, SD, CGB Children s Hospital of Philadelphia, Philadelphia, Pennsylvania LM, LBR A Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama PF Nemours Alfred I duPont Hospital for Children, Wilmington, Delaware NP H, MS Prevention Genetics, Marshfield, Wisconsin TLW Pediatric Neurology Department, National Neuroscience Institute AA, and Division of Medical Genetics, Department of Pediatrics, The Children s Hospital AWE, King Fahad Medical City and College of Medicine, King Saud bin Abdulaziz University for Health Sciences AA, AWE, Riyadh, Kingdom of Saudi Arabia Department of Pathology, Brigham and Women s Hospital JAG and Harvard Medical School JAG, Boston, Massachusetts Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania RE Nemours Children s Hospital, Orlando, Florida RF and Medical Examiner s Office, University of Zulia
    J Neuropathol Exp Neurol 73:425-41. 2014

Research Grants

  1. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2005
  2. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2006
  3. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2007
  4. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2009

Collaborators

Detail Information

Publications27

  1. ncbi request reprint Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile
    C G Bonnemann
    Division of Genetics, Children s Hospital, Howard Hughes Medical Institute, USA
    Neuromuscul Disord 12:273-80. 2002
    ..Complete immunohistochemical analysis with all available sarcoglycan antibodies, therefore, is a useful tool to guide the molecular genetic investigations that are necessary to arrive at the correct genetic diagnosis in a given case...
  2. ncbi request reprint Limb-girdle muscular dystrophy in childhood
    CARSTEN G BONNEMANN
    Division of Neurology and Neuromuscular Program, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Pediatr Ann 34:569-77. 2005
    ..Establishing a specific diagnosis requires knowledge about the individual clinical features, expert analysis of the muscule biopsy, and the guided initiation of appropriate genetic testing...
  3. ncbi request reprint Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle
    C G Bonnemann
    Division of Neurology, Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 34th Strteet and Civic Center Boulevard, Philadelphia, PA 19104, USA
    J Neurol Sci 206:71-8. 2003
    ..The reason why filamin C accumulates in cores is unclear at present, but we postulate that it may be critically involved in the chain of events eventually leading to myofibrillar degeneration...
  4. ncbi request reprint Myopathies resulting from mutations in sarcomeric proteins
    CARSTEN G BONNEMANN
    Division of Neurology and Pennsylvania Muscle Institute, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Neurol 17:529-37. 2004
    ..The past decade has seen the discovery of the major role that mutations in the protein components of the sarcomere plays as a cause of human muscle disease. An overview of the more precise molecular definitions of these diseases is timely...
  5. pmc Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Brain 132:452-64. 2009
    ....
  6. ncbi request reprint Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies
    CARSTEN G BONNEMANN
    Division of Neurology, The Children s Hospital of Philadelphia, PA 19104, USA
    Semin Pediatr Neurol 9:81-99. 2002
    ..Although recent progress has been tremendous, much remains to be learned about the pathophysiological consequences caused by a deficiency of any one of these components...
  7. pmc Autosomal recessive inheritance of classic Bethlem myopathy
    A Reghan Foley
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neuromuscul Disord 19:813-7. 2009
    ..Thus, autosomal recessive inheritance can also underlie Bethlem myopathy, supporting the notion that Ullrich CMD and Bethlem myopathy are part of a common clinical and genetic spectrum...
  8. pmc Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant
    Rui Zhu Zhang
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 285:10005-15. 2010
    ..Together, the results suggest that the C2a splice variant may functionally compensate for the loss of the normal COL6A2 chain when mutations occur in the C2 subdomain...
  9. doi request reprint Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy
    A Reghan Foley
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA
    Ann Neurol 69:206-11. 2011
    ..Our findings have important implications for the genetic evaluation of patients with collagen VI-related myopathies as well as for potential therapeutic interventions for this patient population...
  10. ncbi request reprint Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations
    Katherine G Meilleur
    From the National Institute of Nursing Research, Bethesda, Maryland KGM National Institute of Neurological Disorders and Stroke, Bethesda, Maryland KZ, Jd, yh, SD, CGB Children s Hospital of Philadelphia, Philadelphia, Pennsylvania LM, LBR A Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama PF Nemours Alfred I duPont Hospital for Children, Wilmington, Delaware NP H, MS Prevention Genetics, Marshfield, Wisconsin TLW Pediatric Neurology Department, National Neuroscience Institute AA, and Division of Medical Genetics, Department of Pediatrics, The Children s Hospital AWE, King Fahad Medical City and College of Medicine, King Saud bin Abdulaziz University for Health Sciences AA, AWE, Riyadh, Kingdom of Saudi Arabia Department of Pathology, Brigham and Women s Hospital JAG and Harvard Medical School JAG, Boston, Massachusetts Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania RE Nemours Children s Hospital, Orlando, Florida RF and Medical Examiner s Office, University of Zulia
    J Neuropathol Exp Neurol 73:425-41. 2014
    ..Glu509Lys of Patient 1 in this study may confer a milder phenotype. Overall, these results expand the clinical and genetic spectrum of dystroglycanopathy. ..
  11. pmc COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy
    Te Cheng Pan
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 288:14320-31. 2013
    ..The Col6a3 mouse mutant lacking functional α3(VI) collagen chains thus serves as an animal model for COL6A3-related muscular dystrophy...
  12. ncbi request reprint Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
    Janbernd Kirschner
    Division of Neurology, The Children s Hospital of Philadelphia, and University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 132:296-301. 2005
    ....
  13. ncbi request reprint The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries
    Janbernd Kirschner
    Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA
    Arch Neurol 61:189-99. 2004
    ....
  14. doi request reprint Predominant fiber atrophy and fiber type disproportion in early ullrich disease
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Abramson Research Center, 516F, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA
    Muscle Nerve 38:1184-91. 2008
    ..Thus, early in the disease, UCMD presents as a non-dystrophic myopathy with predominant fiber atrophy. Collagen VI mutations also qualify as a cause of fiber type disproportion...
  15. ncbi request reprint Congenital muscular dystrophies and the extracellular matrix
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Semin Pediatr Neurol 13:80-9. 2006
    ..This correlation will frequently lead to a considerably expanded clinical spectrum associated with a given CMD gene...
  16. doi request reprint Congenital muscular dystrophies: toward molecular therapeutic interventions
    James Collins
    Division of Neurology, Cincinnati Children s Hospital Medical Center, MLC 2015, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Curr Neurol Neurosci Rep 10:83-91. 2010
    ..In this article, we review our current understanding of the molecular pathogenesis of several CMD types and how these mechanisms may be therapeutically targeted...
  17. ncbi request reprint Status epilepticus secondary to hypertensive encephalopathy as the presenting manifestation of Guillain-Barré syndrome
    Nicholas S Abend
    Division of Neurology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Pediatr Emerg Care 23:659-61. 2007
    ..Guillain-Barré syndrome may result in hypertensive encephalopathy that can manifest as status epilepticus before the onset of motor symptoms...
  18. doi request reprint Subcutaneous sumatriptan in an adolescent with acute posttraumatic headache
    Nicholas S Abend
    Division of Neurology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Child Neurol 23:438-40. 2008
    ..We describe an adolescent with acute posttraumatic headache that did not respond to several initial medications but had rapid and sustained improvement in headache and associated migrainous features with subcutaneous sumatriptan...
  19. pmc Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation
    Emanuela Gussoni
    Division of Genetics, Children s Hospital, Boston, Massachusetts 02115, USA
    J Clin Invest 110:807-14. 2002
    ..The presence of bone marrow-derived donor nuclei in the muscle of this patient documents the ability of exogenous human bone marrow cells to fuse into skeletal muscle and persist up to 13 years after transplantation...
  20. pmc Myotubes differentiate optimally on substrates with tissue-like stiffness: pathological implications for soft or stiff microenvironments
    Adam J Engler
    School of Engineering and Applied Science, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Cell Biol 166:877-87. 2004
    ..These findings have major implications for in vivo introduction of stem cells into diseased or damaged striated muscle of altered mechanical composition...
  21. pmc Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
    Steven E Boyden
    Division of Genetics, Program in Genomics, and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Neurogenetics 13:115-24. 2012
    ..Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism...
  22. pmc Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Clin Invest 118:904-12. 2008
    ..Thus, a novel laser microdissection/proteomics approach has helped identify both inherited and de novo mutations in FHL1, thereby defining a new X-linked protein aggregation disorder of muscle...
  23. pmc Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum
    Diana Xerxes Bharucha-Goebel
    Division of Neurology, Children s Hospital of Philadelphia, PA, USA
    Neurology 80:1584-9. 2013
    ..To report a series of 11 patients on the severe end of the spectrum of ryanodine receptor 1 (RYR1) gene-related myopathy, in order to expand the clinical, histologic, and genetic heterogeneity associated with this group of patients...
  24. 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...
  25. ncbi request reprint Serial casting for the management of ankle contracture in Duchenne muscular dystrophy
    Allan M Glanzman
    Department of Physical Therapy, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Pediatr Phys Ther 23:275-9. 2011
    ..To evaluate the effect of serial casting in boys with Duchenne muscular dystrophy...
  26. doi request reprint Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem
    Yaqun Zou
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    J Neuropathol Exp Neurol 67:144-54. 2008
    ....
  27. doi request reprint Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease
    Lauren A Beslow
    Division of Neurology, The Children s Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104 4399, USA
    Pediatr Radiol 38:694-6. 2008
    ....

Research Grants5

  1. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2005
    ..Knowledge about these pathways is a prerequisite for developing effective treatment strategies in this new and important group of muscle disorders. ..
  2. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2006
    ..Knowledge about these pathways is a prerequisite for developing effective treatment strategies in this new and important group of muscle disorders. ..
  3. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2007
    ..Knowledge about these pathways is a prerequisite for developing effective treatment strategies in this new and important group of muscle disorders. ..
  4. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2009
    ..Knowledge about these pathways is a prerequisite for developing effective treatment strategies in this new and important group of muscle disorders. ..