Hasil Pencarian - Carsten G Bönnemann

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  1. 1
    The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

    The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy oleh Alec R. Nickolls, Carsten G. Bönnemann

    Diterbitkan 2018-12-01
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  2. 2
    Attribution of original contribution in large datasets in the era of multi‐omic studies

    Attribution of original contribution in large datasets in the era of multi‐omic studies oleh Payam Mohassel, Eleonora Guadagnin, Carsten G. Bönnemann

    Diterbitkan 2022-06-01
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  3. 3
    siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

    siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy oleh Véronique Bolduc, Yaqun Zou, Dayoung Ko, Carsten G Bönnemann

    Diterbitkan 2014-01-01
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  4. 4
    Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies

    Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies oleh Alec R. Nickolls, Michelle M. Lee, Kristen Zukosky, Barbara S. Mallon, Carsten G. Bönnemann

    Diterbitkan 2020-06-01
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  5. 5
    Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

    Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy oleh Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann

    Diterbitkan 2024-06-01
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  6. 6
    Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

    Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD oleh Sara Aguti, Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni, Haiyan Zhou

    Diterbitkan 2020-09-01
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  7. 7
    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness oleh Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Francesco Muntoni

    Diterbitkan 2020-08-01
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  8. 8
    Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.

    Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. oleh Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss

    Diterbitkan 2017-01-01
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  9. 9
    Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle

    Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle oleh Prech Uapinyoying, Marshall Hogarth, Surajit Battacharya, Davi A.G. Mázala, Karuna Panchapakesan, Carsten G. Bönnemann, Jyoti K. Jaiswal

    Diterbitkan 2023-08-01
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  10. 10
    Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3

    Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3 oleh Mary P. Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten G. Bonnemann, Elazar Zelzer, Anne M. Moon, Gabrielle Kardon

    Diterbitkan 2016-11-01
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  11. 11
    Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

    Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management oleh Kristin L. Fraser, Scott Wong, A. Reghan Foley, Sameer Chhibber, Carsten G. Bönnemann, Daniel J. Lesser, Carla Grosmann, Anne Rutkowski

    Diterbitkan 2017-06-01
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  12. 12
    Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

    Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. oleh James J Dowling, Andrew P Vreede, Sean E Low, Elizabeth M Gibbs, John Y Kuwada, Carsten G Bonnemann, Eva L Feldman

    Diterbitkan 2009-02-01
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  13. 13
    Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

    Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature oleh Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen

    Diterbitkan 2020-11-01
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  14. 14
    6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

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

    Diterbitkan 2018-07-01
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  15. 15
    SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins

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

    Diterbitkan 2022-09-01
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  16. 16
    Hypoglycemia in patients with congenital muscle disease

    Hypoglycemia in patients with congenital muscle disease oleh 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

    Diterbitkan 2020-02-01
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  17. 17
    Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

    Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies oleh 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

    Diterbitkan 2021-11-01
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  18. 18
    A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

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

    Diterbitkan 2021-03-01
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  19. 19
    Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

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

    Diterbitkan 2024-04-01
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  20. 20
    Transcriptional Programming of Human Mechanosensory Neuron Subtypes from Pluripotent Stem Cells

    Transcriptional Programming of Human Mechanosensory Neuron Subtypes from Pluripotent Stem Cells oleh 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

    Diterbitkan 2020-01-01
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