M .D.
National Institute of Neurological Disorders and Stroke Porter Neuroscience Research Center Building 35, Room 2A-116

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

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

Adjunct Associate Professor of Neurology at University of Pennsylvania School of Medicine (2011 – 2014)
Adjunct Professor of Neurology at University of Pennsylvania School of Medicine (2014– present)
Assistant Professor of Pediatrics at University of Pennsylvania School of Medicine (2002 – 2010)
Assistant Professor of Neurology at University of Pennsylvania School of Medicine (2002 – 2010)
MD, Medical school at Albert-Ludwigs University Freiburg, Germany (1988)
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. Vol 132A. 2005:296-301.
C.G. Bönnemann, K. Brockmann, F. Hanefeld. Muscle ultrasound in Bethlem myopathy.. Neuropediatrics. Vol 34. 2003:335-336.
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. Vol 206. 2003:71-78.
J. Kirschner and C.G. Bönnemann. The congenital and limb girdle muscular dystrophies: Sharpening the focus, blurring the bounderies, forthcoming. Arch Neurol. Vol 61. 2004:189-199.
C.G. Bönnemann and K.M.D. Bushby. The limb girdle muscular dystrophies.. Myology, 3rd edition. McGraw Hill; 2004.
C.G. Bönnemann. The limb girdle muscular dystrophies.. Neuromuscular Disorders of Infancy and Childhood: A Clinician?s Approach.. 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. Vol 110. 2002:807-814.
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. Vol 71. 2002:739-749.