Emma Ciafaloni

University of Rochester Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index8.6kcitations210works8.52yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Muscle Physiology and Disorders(97), Neurogenetic and Muscular Disorders Research(48), Genetic Neurodegenerative Diseases(28), Myasthenia Gravis and Thymoma(28), Cardiomyopathy and Myosin Studies(25)

Publications204 total

Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.
Scientific Reports·2025· 1 citedOpen Access
Risk of Cardiac Disease in a Population-Based Cohort of Myotonic Dystrophy Type 1 and Type 2 in the United States
Neurology Genetics·2025Open Access
Long-Term Functional Outcomes, Safety, and Micro-Dystrophin Expression Following Delandistrogene Moxeparvovec Treatment in DMD: EMBARK 2-Year Results
Neuropediatrics·2025
675PDesign of an observational study to assess real-world outcomes of patients with Duchenne muscular dystrophy in the US treated with givinostat
Neuromuscular Disorders·2025
80PDelandistrogene moxeparvovec in Duchenne muscular dystrophy: long-term EMBARK 2-year functional outcomes, safety, and micro-dystrophin expression
Neuromuscular Disorders·2025· 1 cited
581POnasemnogene abeparvovec for spinal muscular atrophy in patients with detectable anti-AAV9 antibodies
Neuromuscular Disorders·2025
Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy
Neurology Genetics·2025· 1 citedOpen Access
Concurrent Inclusion Body Myositis and Late Onset Pompe Disease: A Case Report
Muscle & Nerve·2025· 1 cited
A Phase 3 Trial of Inebilizumab in Generalized Myasthenia Gravis
New England Journal of Medicine·2025· 32 cited
Survey Development to Assess for Barriers and Facilitators to Continuing Non-invasive Ventilation in Individuals with Amyotrophic Lateral Sclerosis (S6.006)
Neurology·2025
LEOPARD-DMD: Six-Month Results of Longitudinal Study of Disease Progression of Duchenne Muscular Dystrophy through the Patient and Caregiver Perspective (P7-6.007)
Neurology·2025
Phase 3 Myasthenia Gravis Inebilizumab Trial (MINT): Efficacy and Safety Results in Patients with Generalized MG (PL5.005)
Neurology·2025
Development of a Clinical Tool to Aid in the Diagnosis of Duchenne Muscular Dystrophy (P7-6.010)
Neurology·2025
Neurologists are Better Prepared to Deliver Care in Adult Patients with Spinal Muscular Atrophy After Participating in a CME-Certified Program (P4-5.009)
Neurology·2025
Prophylactic Use of Cardiac Medications and Survival in Duchenne Muscular Dystrophy
Muscle & Nerve·2025· 3 citedOpen Access
Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course
Orphanet Journal of Rare Diseases·2024Open Access
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial
Nature Medicine·2024· 121 citedOpen Access
423P Safety and efficacy of delandistrogene moxeparvovec versus placebo in Duchenne muscular dystrophy: phase 3 EMBARK primary results
Neuromuscular Disorders·2024
Safety and Efficacy of Delandistrogene Moxeparvovec versus Placebo in Duchenne Muscular Dystrophy (EMBARK): Pivotal Phase 3 Primary Results
Neuropediatrics·2024
Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Annals of the Child Neurology Society·2024· 4 citedOpen Access
page 1 of 11Next →

Frequent Co-authors

Katherine D. Mathews(9), Deborah Fox(9), Janice M. Massey(8), Paul A. Romitti(8), Shree Pandya(8), Charlotte M. Druschel(7), Dennis J. Matthews(7), Christopher Cunniff(6), Lisa A. Miller(6), Craig M. McDonald(6), Perry B. Shieh(6), Richard J. Barohn(5), Sara Shanske(5), Rabi Tawil(5), S. DiMauro(4), Soman Puzhankara(4), Katherine A. James(4), F. John Meaney(4), Jennifer Andrews(4), Natalie Street(4)