Amy Goldstein

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy

Amel Karaa, Richard Haas, Amy Goldstein et al. · Neurology · 2018 · 148 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +15

Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Melanie B. Gillingham, Stephen B. Heitner, Julie Martin et al. · Journal of Inherited Metabolic Disease · 2017 · 109 citations · Full text

Life Sciences, Nutrition, Pharmacology +13

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Peter Witters, Ann Saada, Tomáš Honzík et al. · Genetics in Medicine · 2017 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Ghayda Mirzaa, Valerio Conti, Andrew E. Timms et al. · The Lancet Neurology · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Biology +12