Zebrafish models of collagen VI-related myopathies
Telfer, W.R., Busta, A.S., Bonnemann, C.G., Feldman, E.L., Dowling, J.J.
Published in Human molecular genetics (15.06.2010)
Published in Human molecular genetics (15.06.2010)
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A refined diagnostic algorithm for Bethlem myopathy
Hicks, D, Lampe, A K, Barresi, R, Charlton, R, Fiorillo, C, Bonnemann, C G, Hudson, J, Sutton, R, Lochmüller, H, Straub, V, Bushby, K
Published in Neurology (01.04.2008)
Published in Neurology (01.04.2008)
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212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015
Saunier, M., Bönnemann, C.G., Durbeej, M., Allamand, V., Allamand, Valérie, Bonaldo, Paolo, Bönnemann, Carsten, Brown, Susan, Burkin, Dean, Campbell, Kevin P., Durbeej-Hjalt, Madeleine, Girgenrath, Mahasweta, Nevo, Yoram, Ruegg, Markus, Saunier, Margot, Toda, Tatsushi, Willmann, Raffaella
Published in Neuromuscular disorders : NMD (01.03.2016)
Published in Neuromuscular disorders : NMD (01.03.2016)
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Conference Proceeding
Clinical and molecular overlap between myopathies and inherited connective tissue diseases
Voermans, N.C, Bönnemann, C.G, Huijing, P.A, Hamel, B.C, van Kuppevelt, T.H, de Haan, A, Schalkwijk, J, van Engelen, B.G, Jenniskens, G.J
Published in Neuromuscular disorders : NMD (01.11.2008)
Published in Neuromuscular disorders : NMD (01.11.2008)
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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Lampe, A K, Dunn, D M, von Niederhausern, A C, Hamil, C, Aoyagi, A, Laval, S H, Marie, S K, Chu, M-L, Swoboda, K, Muntoni, F, Bonnemann, C G, Flanigan, K M, Bushby, K M D, Weiss, R B
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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Muscle MRI in FHL1-linked reducing body myopathy
Astrea, G, Schessl, J, Clement, E, Tosetti, M, Mercuri, E, Rutherford, M, Cioni, G, Bönnemann, C.G, Muntoni, F, Battini, R
Published in Neuromuscular disorders : NMD (01.10.2009)
Published in Neuromuscular disorders : NMD (01.10.2009)
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Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
Hicks, Debbie, Farsani, Golara Torabi, Laval, Steven, Collins, James, Sarkozy, Anna, Martoni, Elena, Shah, Ashoke, Zou, Yaqun, Koch, Manuel, Bönnemann, Carsten G, Roberts, Mark, Lochmüller, Hanns, Bushby, Kate, Straub, Volker
Published in Human molecular genetics (01.05.2014)
Published in Human molecular genetics (01.05.2014)
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Journal Article
The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies
Vainzof, M., Passos-Bueno, M. R., Canovas, M., Moreira, E. S., Pavanello, R. C. M., Marie, S. K., Anderson, L. V. B., Bonnemann, C. G., McNally, E. M., Nigro, V., Kunkel, L. M., Zatz, M.
Published in Human molecular genetics (01.12.1996)
Published in Human molecular genetics (01.12.1996)
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Journal Article
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
Bönnemann, Carsten G, Yoshida, Mikiharu, Mizuno, Yuji, McNally, Elizabeth M, Duggan, David J, Modi, Raju, Noguchi, Satoru, Angelini, Corrado, Kunkel, Louis M, Hoffman, Eric P, Gussoni, Emanuela, Ozawa, Eijiro
Published in Nature genetics (01.11.1995)
Published in Nature genetics (01.11.1995)
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Journal Article
Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy
Noguchi, Satoru, McNally, Elizabeth M., Ben Othmane, Kamel, Hagiwara, Yasuko, Mizuno, Yuji, Yoshida, Mikiharu, Yamamoto, Hideko, Bönnemann, Carsten G., Gussoni, Emanuela, Denton, Peter H., Kyriakides, Theodoros, Middleton, Lefkos, Hentati, Faycal, Ben Hamida, Mongi, Nanoka, Ikuya, Vance, Jeffery M., Kunkel, Louis M., Ozawa, Eijiro
Published in Science (American Association for the Advancement of Science) (03.11.1995)
Published in Science (American Association for the Advancement of Science) (03.11.1995)
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Journal Article
Caveolin-3 in Muscular Dystrophy
McNally, Elizabeth M., de Sá Moreira, Eloisa, Duggan, David J., Bönnemann, Carsten G., Lisanti, Michael P., Lidov, Hart G.W., Vainzof, Mariz, Rita Passos-Bueno, M., Hoffman, Eric P., Zatz, Mayana, Kunkel, Louis M.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Journal Article
Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum
Smith, C., Parboosingh, J.S., Boycott, K.M., Bönnemann, C.G., Mah, J.K., Lamont, R.E., Micheil Innes, A., Bernier, F.P.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Journal Article
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy
McNally, Elizabeth M., Duggan, David, Rafael Gorospe, J., Bönnemann, Carsten G., Fanin, Marina, Pegoraro, Elena, Lidov, Hart G. W., Noguchi, Satoru, Ozawa, Eijiro, Finkel, Richard S., Cruse, Robert P., Angelini, Corrado, Kunkel, Louis M., Hoffman, Eric P.
Published in Human molecular genetics (01.11.1996)
Published in Human molecular genetics (01.11.1996)
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An ultrafast system for signaling mechanical pain in human skin
Nagi, Saad S, Marshall, Andrew G, Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderström, Mikael, Shaikh, Sumaiya, O'Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bönnemann, Carsten G, Chesler, Alexander T, Bushnell, M Catherine, McGlone, Francis, Olausson, Håkan
Published in Science advances (2019)
Published in Science advances (2019)
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Journal Article
Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)
Bönnemann, Carsten G., Passos-Bueno, M. Rita, McNally, Elizabeth M., Vainzof, Mariz, Moreira, Eloísa de Sá, Marie, Suely K., Pavanello, Rita C. M., Noguchi, Satoru, Ozawa, Eijiro, Zatz, Mayana, Kunkel, Louis M.
Published in Human molecular genetics (01.12.1996)
Published in Human molecular genetics (01.12.1996)
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Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile
Bönnemann, C.G., Wong, J., Jones, K.J., Lidov, H.G.W., Feener, C.A., Shapiro, F., Darras, B.T., Kunkel, L.M., North, K.N.
Published in Neuromuscular disorders : NMD (01.03.2002)
Published in Neuromuscular disorders : NMD (01.03.2002)
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