Charlotte J. Sumner

Johns Hopkins University

Publishes on Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases. 43 papers and 2.6k citations.

PubIndex Score43Top 57% · seniorHow it's scored

43Publications

2.6kTotal Citations

First publication: 1975First senior author: 2003

Hereditary Neurological Disorders Neurogenetic and Muscular Disorders Research Genetic Neurodegenerative Diseases RNA modifications and cancer Peripheral Neuropathies and Disorders

Top publicationsby citations

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

Vera Fridman, Michael E. Shy, Brian N. Bundy et al.|Journal of Neurology Neurosurgery & Psychiatry|2014

Cited by 342

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Charlotte J. Sumner, Kenneth H. Fischbeck, Thanh N. Huynh et al.|Annals of Neurology|2003

Cited by 288

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

Isabella Palazzolo, Maria Pennuto, Conor M. Stack et al.|Neuron|2009

Cited by 215

Distal spinal and bulbar muscular atrophy caused by dynactin mutation

Imke Puls, Christy L. Ludlow, Shin J. Oh et al.|Annals of Neurology|2005

Cited by 200

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

Daniel M. Ramos, Charlotte J. Sumner, Constantin d’Ydewalle et al.|Journal of Clinical Investigation|2019

Cited by 190