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Collaborations and top research areas from the last five years
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Genetic Suppression of SMN Mutations in Spinal Muscular Atrophy
Burghes, A. H. M. (PI)
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
07/1/21 → 06/30/26
Project: Research
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Creation and correction of Spinal Muscular Atrophy in the pig
Burghes, A. H. M. (PI) & Kaspar, B. K. (CoPI)
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
04/1/14 → 03/31/17
Project: Research
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Delivery of therapeutic genes in motor neuron disease
Burghes, A. H. M. (PI) & Cleveland, D. W. (CoPI)
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
09/30/09 → 08/31/12
Project: Research
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Spinal Muscular Atrophy-- SMNs role in motor neurons
Burghes, A. H. M. (PI)
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
06/1/01 → 05/31/06
Project: Research
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Sm-site containing mRNAs can accept Sm-rings and are downregulated in Spinal Muscular Atrophy
Blatnik, A. J., Sanjeev, M., Slivka, J., Pastore, B., Embree, C. M., Tang, W., Singh, G. & Burghes, A. H. M., Aug 28 2025, In: Nucleic Acids Research. 53, 15, gkaf794.Research output: Contribution to journal › Article › peer-review
Open Access -
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease
Gohlke, J., Lindqvist, J., Hourani, Z., Heintzman, S., Tonino, P., Elsheikh, B., Morales, A., Vatta, M., Burghes, A., Granzier, H. & Roggenbuck, J., Dec 1 2024, In: Human Molecular Genetics. 33, 23, p. 2003-2023 21 p.Research output: Contribution to journal › Article › peer-review
Open Access -
The ClC-1 chloride channel inhibitor NMD670 improves skeletal muscle function in rat models and patients with myasthenia gravis
Skov, M., Ruijs, T. Q., Grønnebæk, T. S., Skals, M., Riisager, A., Winther, J. B., Dybdahl, K. L. T., Findsen, A., Morgen, J. J., Huus, N., Broch-Lips, M., Nielsen, O. B., de Cuba, C. M. K. E., Heuberger, J. A. A. C., de Kam, M. L., Tannemaat, M., Verschuuren, J. J. G. M., Knutsen, L. J. S., Kelly, N. M. & Jensen, K. G. & 10 others, , 2024, In: Science Translational Medicine. 16, 739Research output: Contribution to journal › Article › peer-review
18 Link opens in a new tab Scopus citations -
Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy
Day, J. W., Mendell, J. R., Burghes, A. H. M., van Olden, R. W., Adhikary, R. R. & Dilly, K. W., Dec 14 2023, In: Molecular Therapy - Methods and Clinical Development. 31, 101117.Research output: Contribution to journal › Article › peer-review
Open Access6 Link opens in a new tab Scopus citations -
Base editing rescue of spinal muscular atrophy in cells and in mice
Arbab, M., Matuszek, Z., Kray, K. M., Du, A., Newby, G. A., Blatnik, A. J., Raguram, A., Richter, M. F., Zhao, K. T., Levy, J. M., Shen, M. W., Arnold, W. D., Wang, D., Xie, J., Gao, G., Burghes, A. H. M. & Liu, D. R., Apr 21 2023, In: Science. 380, 6642, eadg6518.Research output: Contribution to journal › Article › peer-review
Open Access96 Link opens in a new tab Scopus citations