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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Journal Article
Genetic and clinical findings in a Chinese cohort of patients with collagen VI‐related myopathies
Fan, Y., Liu, A., Wei, C., Yang, H., Chang, X., Wang, S., Yuan, Y., Bonnemann, C., Wu, Q., Wu, X., Xiong, H.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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Journal Article
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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Journal Article
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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Journal Article
Transcriptome profiling identifies key pathways important in collagen VI related muscular dystrophies including differences between patients with dominant negative vs. null mutations
Butterfield, R, Dunn, D, Hu, Y, Bonnemann, C, Weiss, R
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Titinopathies – Establishment of an international database of TTN mutations and their phenotypes
Hackman, P, Savarese, M, Bonnemann, C, Ferreiro, A, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
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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Journal Article
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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Journal Article
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
MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement
Reghan Foley, A, Cocanougher, B, Flynn, L, Yun, P, Jain, M, Waite, M, Vasavada, R, de Chastonay, S, Donkervoort, S, Bonnemann, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Antioxidant therapy in RYR1-related myopathies
Arveson, I, Witherspoon, J, Drinkard, B, Waite, M, Razaqyar, M, Tounkara, F, Elliott, J, Shelton, M, Jain, M, Bonnemann, C, Meilleur, K
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
Zou, Y, Donkervoort, S, Salo, A, Barnes, A, Hu, Y, Reghan Foley, A, Makareeva, E, Leach, M, Dastgir, J, Cohn, R, DiNonno, W, Leikin, S, Marini, J, Myllyharju, J, Bonnemann, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy
Punetha, J, Kesari, A, Hoffman, E, Gos, M, Kaminska, A, Kostera-Pruszczyk, A, Hu, Y, Zou, Y, Bonnemann, C, Jedrzejowska, M
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement
Oates, E, Yau, K, Donkervoort, S, Swanson, L, Brammah, S, Topf, A, Richard, I, Ferreiro, A, Hoffman, E, Bushby, K, Straub, V, Udd, B, Lek, M, MacArthur, D, Granzier, H, Beggs, A, Bonnemann, C, North, K, Davis, M, Laing, N
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Serum biomarker discovery for congenital muscular dystrophies
Bharucha-Goebel, D, Collins, J, Hu, Y, Reghan Foley, A, Donkervoort, S, Leach, M, Dastgir, N, Vuillerot, C, Meilleur, K, Jain, M, Waite, M, Jacobson, S, Gordish, H, Rutkowski, A, Hoffman, E, Hathout, Y, Bonnemann, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
P.13.9 Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness in neuromuscular disorders
Dastgir, J, Vuillerot, C, Harrison, K, Poon, A, Donkervoort, S, Leach, M, Jain, M, Meilleur, K, Rutkowski, A, Mankodi, A, Bonnemann, C
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
Sáenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camaño, P., Urtasun, M., Vílchez, J., Gutiérrez-Rivas, E., Emparanza, J., Merlini, L., Paisán, C., Goicoechea, M., Blázquez, L., Eymard, B., Lochmuller, H., Walter, M., Bonnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Martí-Massó, J. F., de Munain, A. López
Published in Brain (London, England : 1878) (01.04.2005)
Published in Brain (London, England : 1878) (01.04.2005)
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