Carsten G. Bönnemann, M.D.

Adjunct Investigator, Medical Genetics Branch
Senior Investigator and Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch
National Institute of Neurological Disorders and Stroke

Selected Publications

C.G. Bönnemann: The Collagen VI related myopathies: Muscle meets its matrix. Nat Rev Neurol, 21:379-90. 2011. [PubMed]

R.R. Foley, Y. Hu, Y. Zou, M. Yang, L. Medne, M. Leach, L.K. Conlin, N. Spinner, T. H. Shaikh, M. Falk, A. M. Neumeyer, L. Bliss, B.S. Tseng, T.L. Winder, C.G. Bönnemann. Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy. Ann Neurol, 69:206-11. 2011. [PubMed]

J. Schessl, A.L. Taratuto, C. Sewry, R. Battini, S.S. Chin, A.L Dubrowsky, M.G. Erro, B. Maiti, P. Olmos, M. Robertella, M. Saccoliti, M, Scavina, Y. Zou, Y. Hu, H.H. Goebel, K.M. Flanigan, F. Muntoni, C.G. Bönnemann. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.. Brain, 132:452-64. 2009. [PubMed]

J. Schessl, N.M. Goemans, A.M.I Magold, Y. Zou, Y. Hu, J. Kirschner, R. Sciot, C.G. Bönnemann. Predominant fiber atrophy and fiber type disproportion in early Ullrich disease. Muscle & Nerve, 38:1184-91. 2008. [PubMed]

J. Schessl, Y. Zou, M. McGrath, B. Cowling, Y. Hu, J. Kirschner, D. Cottle, H.H. Goebel, M. Rosenblatt, A. Judkins, A. Gupta , J. Golden, K. Flanigan, F. Muntoni, C. Mitchell, C.G. Bönnemann. Proteomic identification of the LIM domain protein FHL1 as the gene-product mutated in reducing body myopathy. J Clin Invest, 118:904-912. 2008. [PubMed]

Y. Zou, R. Zhang, P. Petrinin, M.L. Chu, C. G. Bönnemann. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle. J Neuropathol Exp Neurol, 67:1544-54 2008. [PubMed]

A.R. Foley, Y. Hu, Y. Zou, A. Columbus, J. Shoffner, D.M. Dunn, R.B. Weiss, C.G. Bonnemann. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord, 19:813-7. 2009. [PubMed]

A. Ferreiro, C. Ceuterick - de Groote, N. J. Marks, Goemans, G., Schreiber, F., Hanefeld, J., J. Martin, M. Fardeau, H.H. Goebel, P. Richard, P. Guicheney, C.G. Bönnemann. SEPN1 mutations cause the Mallory body-like form of desmin-myopathy: From desminopathy to selenopathy. Ann Neurol, 55: 676-686. 2004.

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, 73:355-369. 2003. [PubMed]

C.G. Bönnemann, G.F. Cox, F. Shapiro, J.J. Wu, C.A. Feener, T.G. Thompson, D.C. Anthony, D.R. Eyre, B.T. Darras, L.M. Kunkel. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci USA , 97: 1212-1217. 2000. [PubMed]

C.G. Bönnemann, R. Modi, S. Noguchi, Y. Mizuno, M. Yoshida, E. Gussoni, E.M. McNally, D.J. Duggan, C. Angelini, E.P. Hoffman, E. Ozawa, L.M. Kunkel. beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet,11:266-273. 1995. [PubMed]

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Last Reviewed: August 27, 2013