The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

por Nickolls, Alec R., Bönnemann, Carsten G.
Publicado 2018

Attribution of original contribution in large datasets in the era of multi‐omic studies

por Mohassel, Payam, Guadagnin, Eleonora, Bönnemann, Carsten G.
Publicado 2022

Next-generation sequencing still needs our generation's clinicians

por Foley, A. Reghan, Donkervoort, Sandra, Bönnemann, Carsten G.
Publicado 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 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 2015

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 1998

Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies

por Nickolls, Alec R., Lee, Michelle M., Zukosky, Kristen, Mallon, Barbara S., Bönnemann, Carsten G.
Publicado 2020

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

por Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco
Publicado 2020

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

por Aguti, Sara, Bolduc, Véronique, Ala, Pierpaolo, Turmaine, Mark, Bönnemann, Carsten G., Muntoni, Francesco, Zhou, Haiyan
Publicado 2020

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

por Butterfield, Russell J., Dunn, Diane M., Hu, Ying, Johnson, Kory, Bönnemann, Carsten G., Weiss, Robert B.
Publicado 2017

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 2004

Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle

por Uapinyoying, Prech, Hogarth, Marshall, Battacharya, Surajit, Mázala, Davi A.G., Panchapakesan, Karuna, Bönnemann, Carsten G., Jaiswal, Jyoti K.
Publicado 2023

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 2016

Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

por Fraser, Kristin L., Wong, Scott, Foley, A. Reghan, Chhibber, Sameer, Bönnemann, Carsten G., Lesser, Daniel J., Grosmann, Carla, Rutkowski, Anne
Publicado 2017

Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte

por Shieh, Perry B., Bönnemann, Carsten G., Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.
Publicado 2020

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

por Dowling, James J., Vreede, Andrew P., Low, Sean E., Gibbs, Elizabeth M., Kuwada, John Y., Bonnemann, Carsten G., Feldman, Eva L.
Publicado 2009

A long-read RNA-seq approach to identify novel transcripts of very large genes

por Uapinyoying, Prech, Goecks, Jeremy, Knoblach, Susan M., Panchapakesan, Karuna, Bonnemann, Carsten G., Partridge, Terence A., Jaiswal, Jyoti K., Hoffman, Eric P.
Publicado 2020

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

por Lawal, Tokunbor A., Todd, Joshua J., Witherspoon, Jessica W., Bönnemann, Carsten G., Dowling, James J., Hamilton, Susan L., Meilleur, Katherine G., Dirksen, Robert T.
Publicado 2020

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

por Witherspoon, Jessica W., Vasavada, Ruhi P., Waite, Melissa R., Shelton, Monique, Chrismer, Irene C., Wakim, Paul G., Jain, Minal S., Bönnemann, Carsten G., Meilleur, Katherine G.
Publicado 2018

Hypoglycemia in patients with congenital muscle disease

por Hayes, Leslie H., Yun, Pomi, Mohassel, Payam, Norato, Gina, Donkervoort, Sandra, Leach, Meganne E., Alvarez, Rachel, Rutkowski, Anne, Shaw, Natalie D., Foley, A. Reghan, Bönnemann, Carsten G.
Publicado 2020