Susan Winter

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld et al. · Neurogenetics · 2013 · 108 citations · Full text

Consistent Hyperkinesis, Synaptic Plasticity, Developmental Biology +14

Plasma Carnitine Deficiency

Susan Winter · American journal of diseases of children · 1987 · 101 citations

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Paul M. Coates, Daniel E. Hale, Gaetano Finocchiaro et al. · Journal of Clinical Investigation · 1988 · 101 citations · Full text

Nutrition, Metabolic Disorder, Mild Lipid Deposition +18

Effects of Ascorbic Acid in Alkaptonuria: Alterations in Benzoquinone Acetic Acid and an Ontogenic Effect in Infancy

Jon A. Wolff, Bruce A. Barshop, William L. Nyhan et al. · Pediatric Research · 1989 · 96 citations · Full text

Pharmacology, Ontogenic Effect, Ascorbic Acid +1

A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13

Agnieszka Seyda, Robert F. Newbold, Thomas J. Hudson et al. · The American Journal of Human Genetics · 2001 · 72 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +7