• 7977 Citations
  • 48 h-Index
1974 …2019
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Fingerprint Dive into the research topics where Susan T Iannaccone is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Spinal Muscular Atrophy Medicine & Life Sciences
Spinal Muscular Atrophies of Childhood Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Vitamin E Deficiency Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Research Output 1974 2019

  • 7977 Citations
  • 48 h-Index
  • 167 Article
  • 3 Chapter
  • 1 Letter
  • 1 Review article
10 Citations (Scopus)

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies

ISIS-396443-CS2/ISIS-396443-CS12 Study Groups, May 21 2019, In : Neurology. 92, 21, p. e2492-e2506

Research output: Contribution to journalArticle

Open Access
Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy
Upper Extremity
Action Potentials
Muscles

Role of Nerve and Muscle Biopsies in Pediatric Patients in the Era of Genetic Testing

Yang, K., Iannaccone, S. T., Burkhalter, L. S., Reisch, J. S., Cai, C. & Schindel, D. T., Nov 1 2019, In : Journal of Surgical Research. 243, p. 27-32 6 p.

Research output: Contribution to journalArticle

Genetic Testing
Pediatrics
Biopsy
Muscles
Electronic Health Records

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

the Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Oct 1 2019, In : Journal of Pharmacokinetics and Pharmacodynamics. 46, 5, p. 441-455 15 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Clinical Protocols
Rare Diseases
Uncertainty
Clinical Trials
5 Citations (Scopus)

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy

for the MDA DMD Clinical Research Network, Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Child Development
Weight Gain
Prednisolone
Muscles
14 Citations (Scopus)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, Ryan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Töpf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H. M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E. J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Bönnemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 1 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

Protein Isoforms
Mutation
Skeletal Muscle
Connectin
High-Throughput Nucleotide Sequencing