Stefan Nicolau
Biochemistry, Genetics and Molecular Biology · The Ohio State University
Publications
100
Citations
743
Est. group size
~5
Recurring co-author estimate
Active years
29
Publishing since 1998
Stefan Nicolau's work focuses on neuromuscular disorders, especially muscular dystrophies (like Duchenne and Becker) and rare myopathies, covering their genetic causes, disease mechanisms, and emerging treatments such as gene therapy and CRISPR-based gene editing. The research combines clinical case studies, molecular diagnostics, and therapeutic development, often in collaboration with multi-site clinical consortia. This work would suit students interested in translational neuromuscular disease research bridging molecular biology and clinical medicine.
Publication output has grown from very low levels in 2017-2018 to a sustained higher rate since 2019, with year-to-year fluctuation but consistent activity averaging about 7-8 papers per year over the last five years.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies
The Journal of Pathology · 2026
- Five-year follow-up after gene therapy with ABO-101 in five children with Sanfilippo syndrome type B
Molecular Genetics and Metabolism · 2026
- Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the <scp>OPTIMIZE DMD</scp> Consortium
Muscle & Nerve · 2026
- Quantification of Dystrophin Expression by Capillary Immunoassay
Methods in molecular biology · 2025
- 453PASCC3-related congenital myopathy is linked to a defect in ribosome-associated quality control
Neuromuscular Disorders · 2025
- Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.
UNC Libraries · 2025
- Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone
Journal of the Endocrine Society · 2025
- Immune-Mediated Megaconial Myopathy
Neurology · 2024
- 435P Correction of a common Duchenne muscular dystrophy mutation by CRISPR/Cas9 gene editing using homology-independent targeted integration
Neuromuscular Disorders · 2024
- Sporadic Late-Onset Nemaline Myopathy: Current Landscape
Current Neurology and Neuroscience Reports · 2023
- Autosomal Dominant Limb-Girdle Muscular Dystrophies
Current clinical neurology · 2023
- P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features
Neuromuscular Disorders · 2023
- P408 Clinical and pathologic characterization of a novel homozygous CFL2 mutation in a patient with nemaline myopathy type 7
Neuromuscular Disorders · 2023
- P15 Full-length dystrophin restoration in multiple patient cell lines with DMD pseudoexons using AAV-delivered U7snRNA
Neuromuscular Disorders · 2023
- Molecular Genetic Therapies in the Muscular Dystrophies
Current clinical neurology · 2023
- Neuromuscular Disorders×18
- Neurology×10
- Muscle & Nerve×7
- Frontiers in Neurology×3
- Seminars in Pediatric Neurology×2
- Rabi Tawil
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Kevin M. Flanigan
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Anne M. Connolly
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Conner C. Earl
Biochemistry, Genetics and Molecular Biology · Indiana University
- Emily A. Hayes
Biochemistry, Genetics and Molecular Biology · The Ohio State University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 19, 2026.
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