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

by Alec R. Nickolls, Carsten G. Bönnemann
Published 2018-12-01

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

by Payam Mohassel, Eleonora Guadagnin, Carsten G. Bönnemann
Published 2022-06-01

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

by Véronique Bolduc, Yaqun Zou, Dayoung Ko, Carsten G Bönnemann
Published 2014-01-01

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

by Alec R. Nickolls, Michelle M. Lee, Kristen Zukosky, Barbara S. Mallon, Carsten G. Bönnemann
Published 2020-06-01

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

by Sara Aguti, Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni, Haiyan Zhou
Published 2020-09-01

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

by Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Francesco Muntoni
Published 2020-08-01

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

by Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
Published 2017-01-01

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

by Prech Uapinyoying, Marshall Hogarth, Surajit Battacharya, Davi A.G. Mázala, Karuna Panchapakesan, Carsten G. Bönnemann, Jyoti K. Jaiswal
Published 2023-08-01

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

by Mary P. Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G. Bonnemann, Elazar Zelzer, Anne M. Moon, Gabrielle Kardon
Published 2016-11-01

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

by Kristin L. Fraser, Scott Wong, A. Reghan Foley, Sameer Chhibber, Carsten G. Bönnemann, Daniel J. Lesser, Carla Grosmann, Anne Rutkowski
Published 2017-06-01

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

by James J Dowling, Andrew P Vreede, Sean E Low, Elizabeth M Gibbs, John Y Kuwada, Carsten G Bonnemann, Eva L Feldman
Published 2009-02-01

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

by Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Published 2020-11-01

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

by Jessica W. Witherspoon, Ruhi P. Vasavada, Melissa R. Waite, Monique Shelton, Irene C. Chrismer, Paul G. Wakim, Minal S. Jain, Carsten G. Bönnemann, Katherine G. Meilleur
Published 2018-07-01

Hypoglycemia in patients with congenital muscle disease

by Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann
Published 2020-02-01

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

by Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas A. Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G. Bönnemann, Eric A. Shoubridge, Thorsten Hornemann
Published 2022-09-01

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

by Eleonora Guadagnin, Payam Mohassel, Kory R. Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying, Jahannaz Dastgir, Ying Hu, Allissa Dillmann, Mark R. Cookson, A. Reghan Foley, Carsten G. Bönnemann
Published 2021-11-01

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

by Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann, Vajira H. W. Dissanayake
Published 2021-03-01

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

by Janelle Geist Hauserman, Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B. Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A. Reghan Foley, Payam Mohassel, Carsten G. Bönnemann
Published 2024-04-01

Transcriptional Programming of Human Mechanosensory Neuron Subtypes from Pluripotent Stem Cells

by Alec R. Nickolls, Michelle M. Lee, David F. Espinoza, Marcin Szczot, Ruby M. Lam, Qi Wang, Jeanette Beers, Jizhong Zou, Minh Q. Nguyen, Hans J. Solinski, Aisha A. AlJanahi, Kory R. Johnson, Michael E. Ward, Alexander T. Chesler, Carsten G. Bönnemann
Published 2020-01-01

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

by Joshua J. Todd, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Ami Mankodi, Irene C. Chrismer, Carolyn Allen, Mary D. Meyer, Anna Kuo, Monique S. Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G. Bönnemann, James J. Dowling, James J. Dowling, Katherine G. Meilleur
Published 2018-03-01