The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy

Por Bönnemann, Carsten G.
Publicado no Handb Clin Neurol (2011)

The collagen VI-related myopathies: muscle meets its matrix

Por Bönnemann, Carsten G.
Publicado no Nat Rev Neurol (2011)

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

Por Goebel, Hans H., Bönnemann, Carsten G.
Publicado no Neuromuscul Disord (2011)

199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The Netherlands

Por Bertrand, Anne T., Bönnemann, Carsten G., Bonne, Gisèle
Publicado no Neuromuscul Disord (2014)

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

Por Ravenscroft, Gianina, Laing, Nigel G., Bönnemann, Carsten G.
Publicado no Brain (2015)

Next-generation sequencing still needs our generation's clinicians

Por Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.
Publicado no Neurol Genet (2015)

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

Por Bolduc, Véronique, Zou, Yaqun, Ko, Dayoung, Bönnemann, Carsten G
Publicado em 2014

Spontaneous keloid formation in patients with Bethlem myopathy

Por Collins, James, Foley, A. Reghan, Straub, Volker, Bönnemann, Carsten G.
Publicado em 2012

Molecules in Focus: Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils

Por Chiquet, Matthias, Birk, David E., Bönnemann, Carsten G., Koch, Manuel
Publicado em 2014

Tyrosine 705 Phosphorylation of STAT3 Is Associated with Phenotype Severity in TGFβ1 Transgenic Mice

Por Guadagnin, Eleonora, Narola, Jigna, Bönnemann, Carsten G., Chen, Yi-Wen
Publicado no Biomed Res Int (2015)

Congenital Myopathies: An Update

Por Nance, Jessica R., Dowling, James J., Gibbs, Elizabeth M., Bönnemann, Carsten G.
Publicado no Curr Neurol Neurosci Rep (2012)

Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture

Por Chan, Yiu-mo, Bönnemann, Carsten G., Lidov, Hart G.W., Kunkel, Louis M.
Publicado em 1998

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

Por Pierson, Tyler Mark, Bonnemann, Carsten G, Finkel, Richard S, Bunin, Nancy, Tennekoon, Gihan I
Publicado em 2008

Serial Casting for the Management of Ankle Contracture in Duchenne Muscular Dystrophy

Por Glanzman, Allan M., Flickinger, Jean M., Dholakia, Kripa H., Bönnemann, Carsten G., Finkel, Richard S.
Publicado no Pediatr Phys Ther (2011)

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Por Donkervoort, Sandra, Dastgir, Jahannaz, Hu, Ying, Zein, Wadih, Marks, Harold, Blackstone, Craig, Bönnemann, Carsten G.
Publicado no Clin Genet (2013)

Muscle-Eye-Brain Disease

Por Shenoy, Anant M., Markowitz, Jennifer A., Bonnemann, Carsten G., Krishnamoorthy, Kalpathy, Bossler, Aaron D., Tseng, Brian S.
Publicado em 2010

Myotubes differentiate optimally on substrates with tissue-like stiffness: pathological implications for soft or stiff microenvironments

Por Engler, Adam J., Griffin, Maureen A., Sen, Shamik, Bönnemann, Carsten G., Sweeney, H. Lee, Discher, Dennis E.
Publicado em 2004

New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Por Pan, Te-Cheng, Zhang, Rui-Zhu, Sudano, Dominick G., Marie, Suely K., Bönnemann, Carsten G., Chu, Mon-Li
Publicado em 2003

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3

Por Colasanto, Mary P., Eyal, Shai, Mohassel, Payam, Bamshad, Michael, Bonnemann, Carsten G., Zelzer, Elazar, Moon, Anne M., Kardon, Gabrielle
Publicado no Dis Model Mech (2016)

Autosomal Recessive Inheritance of Classic Bethlem Myopathy

Por Foley, A. Reghan, Hu, Ying, Zou, Yaqun, Columbus, Alexandra, Shoffner, John, Dunn, Diane M., Weiss, Robert B., Bönnemann, Carsten G.
Publicado em 2009