Charlotte J. Sumner
Johns Hopkins University(US)Johns Hopkins Medicine(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, Ion Channels and Receptors, Congenital Anomalies and Fetal Surgery, Muscle Physiology and Disorders
Most-Cited Works
- → The spectrum of neuropathy in diabetes and impaired glucose tolerance(2003)702 cited
- → Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice(2009)387 cited
- → Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy(2011)385 cited
- → Spinal muscular atrophy(2022)383 cited
- → Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy(2007)345 cited
- → Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C(2009)332 cited
- → Regulation of SMN Protein Stability(2008)273 cited