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Perelman School of Medicine at the University of Pennsylvania Advanced Search

Carsten G. Bonnemann, M .D.

Carsten G. Bonnemann, M .D.

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Adjunct Professor of Neurology
Department: Neurology

Contact information
National Institute of Neurological Disorders and Stroke
Porter Neuroscience Research Center
Building 35, Room 2A-116
Bethesda, MD 20832-3705
Office:
Education:
MD
Medical school at Albert-Ludwigs University Freiburg, Germany, 1988.

Doctor of Medicine, "Summa cum laude"., 1989.

“Habilitation” in Pediatrics, University of Göttingen , 2001.
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Description of Research Expertise

Molecular genetics and cell biology of early onset myopathies, congenital muscular dystrophies and limb girdle muscular dystrophies

Description of Clinical Expertise

Neuromuscular disorders of childhood, in particular congenital myopathies and congenital muscular dystrophies.
Neurogenetic disorders of childhood.

Selected Publications

J. Kirschner, I. Hausser, G. Schreiber, H.-J. Christen, S. Brown, I. Anton-Lamprecht, F. Muntoni, F. Hanefeld, C.G. Bönnemann: Ullrich congenital muscular dystrophy: Ultrastructural abnormalities of skin biopsies resemble Ehlers-Danlos syndrome. Am J Med Genet 132A: 296-301, 2005.

C.G. Bönnemann, K. Brockmann, F. Hanefeld: Muscle ultrasound in Bethlem myopathy. Neuropediatrics 34: 335-336, 2003.

T.C. Pan, R.Z. Zhang, D.G. Sudano, S.K. Marie, C.G. Bönnemann, M.L. Chu: New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet, in press 2003.

C.G. Bönnemann, T.G. Thompson, P.F.M. v.d. Ven, H.H. Goebel, I. Warlo, B. Vollmers, J. Reimann, J. Herms, M. Gautel, F. Takada, A.H. Beggs, D.O. Fürst, L.M. Kunkel, F. Hanefeld, R. Schröder: Filamin C accumulation together with alphaB-crystallin is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci 206: 71-78, 2003.

J. Kirschner and C.G. Bönnemann: The congenital and limb girdle muscular dystrophies: Sharpening the focus, blurring the bounderies, forthcoming Arch Neurol 61: 189-199, 2004.

C.G. Bönnemann and K.M.D. Bushby: The limb girdle muscular dystrophies. Myology, 3rd edition A. Engel and C. Franzini-Armstrong (eds.). McGraw Hill, 2004.

C.G. Bönnemann: The limb girdle muscular dystrophies. Neuromuscular Disorders of Infancy and Childhood: A Clinician’s Approach. H. Royden Jones, Jr, D.C. De Vivo, B.T. Darras (eds.). Butterworth-Heinemann, Woburn, 2003.

Gussoni, R.R. Bennet, K.R. Muskiewicz, T. Meyerrose, J.A. Nolta, I. Gilgoff, J. Stein, Y. Chan, H.G. Lidov, C.G. Bönnemann, A.v. Moers, G.E. Morris, J.d. Dunnen, J.S. Chamberlain, L.M. Kunkel, K. Weinberg: Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J. Clin Invest 110: 807-814, 2002.

A. Ferreiro, B. Estournet, S. Quijano-Roy, B. Moghadazadeh, C. Pichereau, N. Goemans, , C. Bönnemann, H. Jungbluth, V. Straub, M. Villanova, J.-P. Leray, N.B. Romero, J.-J. Martin, F. Muntoni, T. Voit, M. Faredeau, P. Guicheney: Mutations of SEPN1, implicated in rigid spine muscular dystrophy, cause the classical phenotype of multi-minicore disease. Am J Hum Genet 71: 739-749, 2002.

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Last updated: 01/30/2014
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