Research Topics
Species | CARSTEN G BONNEMANNSummaryAffiliation: The Children's Hospital of Philadelphia Country: USA Publications
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Publications
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profileC 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...- Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscleC 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... - Myopathies resulting from mutations in sarcomeric proteinsCARSTEN 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... - Limb-girdle muscular dystrophy in childhoodCARSTEN 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... - Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1Joachim 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.... - Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variantRui 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... - Autosomal recessive inheritance of classic Bethlem myopathyA 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... - Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyA 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... - Predominant fiber atrophy and fiber type disproportion in early ullrich diseaseJoachim 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... - Congenital muscular dystrophies: toward molecular therapeutic interventionsJames 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... - Status epilepticus secondary to hypertensive encephalopathy as the presenting manifestation of Guillain-Barré syndromeNicholas 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... - Subcutaneous sumatriptan in an adolescent with acute posttraumatic headacheNicholas 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... - Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyJoachim 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... - Umbilical cord blood transplantation for juvenile metachromatic leukodystrophyTyler 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... - Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe diseaseLauren 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.... - Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and BethlemYaqun Zou
Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
J Neuropathol Exp Neurol 67:144-54. 2008.... - Serial casting for the management of ankle contracture in Duchenne muscular dystrophyAllan 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...
Research Grants
- The Molecular Basis of CMD Types Ullrich and BethlemCarsten 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. ..