Research output per year
Research output per year
Personal profile
Research interests
I am interested in translating pathomechanism into therapeutic strategies for hereditary muscle disorders such as muscular dystrophy and age associated muscle disorders such as sarcopenia.
Clinical interests
Neuromuscular diseases, muscular dystrophy, muscle and nerve disorders
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LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials
Findlay, A. R., Robinson, S. E., Poelker, S., Seiffert, M., Bengoechea, R. & Weihl, C. C., Feb 2023, In: Annals of Clinical and Translational Neurology. 10, 2, p. 181-194 14 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Weihl, C. C., Töpf, A., Bengoechea, R., Duff, J., Charlton, R., Garcia, S. K., Domínguez-González, C., Alsaman, A., Hernández-Laín, A., Franco, L. V., Sanchez, M. E. P., Beecroft, S. J., Goullee, H., Daw, J., Bhadra, A., True, H., Inoue, M., Findlay, A. R., Laing, N., Olivé, M., & 2 others, Jan 2023, In: Acta Neuropathologica. 145, 1, p. 127-143 17 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies
Findlay, A. R. & Weihl, C. C., Dec 1 2022, In: CONTINUUM Lifelong Learning in Neurology. 28, 6, p. 1800-1816 17 p.Research output: Contribution to journal › Article › peer-review
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Clinical utility of anti-cytosolic 5’-nucleotidase 1A antibody in idiopathic inflammatory myopathies
Ikenaga, C., Findlay, A. R., Goyal, N. A., Robinson, S., Cauchi, J., Hussain, Y., Wang, L. H., Kershen, J. C., Beson, B. A., Wallendorf, M., Bucelli, R. C., Mozaffar, T., Pestronk, A. & Weihl, C. C., Mar 2021, In: Annals of Clinical and Translational Neurology. 8, 3, p. 571-578 8 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy
Bengoechea, R., Findlay, A. R., Bhadra, A. K., Shao, H., Stein, K. C., Pittman, S. K., Daw, J. A. W., Gestwicki, J. E., True, H. L. & Weihl, C. C., Aug 3 2020, In: Journal of Clinical Investigation. 140, 8, p. 4470-4485 16 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations