Children's Hospital of Philadelphia Neuromuscular Medicine (Neurology)

Topics

• Muscle Physiology and Disorders 149
• Neurogenetic and Muscular Disorders Research 62
• Cardiomyopathy and Myosin Studies 51
• Genomics and Rare Diseases 32
• Mitochondrial Function and Pathology 31
• Ion channel regulation and function 28
• Connective tissue disorders research 23
• Genetic Neurodegenerative Diseases 16
• Hereditary Neurological Disorders 16
• Foot and Ankle Surgery 15
• Genomic variations and chromosomal abnormalities 12
• Virus-based gene therapy research 12

Most cited

1. Genome Sequencing for Diagnosing Rare Diseases.

   The New England journal of medicine · 2024 · 161 citations · Carsten Bonnemann

2. Current clinical applications of AAV-mediated gene therapy.

   Molecular therapy : the journal of the American Society of Gene Therapy · 2025 · 87 citations · Susan Matesanz, Carsten Bonnemann

3. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.

   The Lancet. Neurology · 2023 · 106 citations · Carsten Bonnemann

4. PIEZO2 in somatosensory neurons controls gastrointestinal transit.

   Cell · 2023 · 115 citations · Carsten Bonnemann

5. Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy.

   The New England journal of medicine · 2023 · 102 citations · Carsten Bonnemann

6. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

   Nature medicine · 2021 · 135 citations · Carsten Bonnemann