• 8179 Citations
  • 49 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.

  • 3 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

  • 8179 Citations
  • 49 h-Index
  • 168 Article
  • 3 Chapter
  • 1 Letter
  • 1 Review article
1 Citation (Scopus)

Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Stokes, M., Varughese, N., Iannaccone, S. & Castro, D., Jan 1 2019, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Myotonic Dystrophy
Thymine
Cytosine
Guanine
Trinucleotide Repeat Expansion
13 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
1 Citation (Scopus)

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