Charlotte J. Sumner

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Vera Fridman, Brian N. Bundy, Mary M. Reilly et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 336 citations · Full text

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Charlotte J. Sumner, Thanh N. Huynh, Jennifer A. Markowitz et al. · Annals of Neurology · 2003 · 287 citations

Valproic Acid, Molecular Physiology, Spinal Cord Injury +12

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

Isabella Palazzolo, Conor M. Stack, Lingling Kong et al. · Neuron · 2009 · 215 citations · Full text

Muscle Pathology, Muscle Function, Spinal Cord Injury +11

Distal spinal and bulbar muscular atrophy caused by dynactin mutation

Imke Puls, Shin J. Oh, Charlotte J. Sumner et al. · Annals of Neurology · 2005 · 200 citations · Full text

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

Daniel M. Ramos, Constantin d’Ydewalle, Vijayalakshmi Gabbeta et al. · Journal of Clinical Investigation · 2019 · 183 citations · Full text

Backgroundspinal Muscular Atrophy, Disease Progression, Pathology +23