Charlotte J. Sumner
Johns Hopkins University(US)Johns Hopkins Medicine(US)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis(2014)338 cited
- → Valproic acid increases SMN levels in spinal muscular atrophy patient cells(2003)288 cited
- → Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy(2009)215 cited
- → Distal spinal and bulbar muscular atrophy caused by dynactin mutation(2005)200 cited
- → Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment(2019)187 cited
- → Indoprofen Upregulates the Survival Motor Neuron Protein through a Cyclooxygenase-Independent Mechanism(2004)159 cited
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