Florian Eichler

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Florian Eichler, Christine Duncan, Patricia L. Musolino et al. · New England Journal of Medicine · 2017 · 595 citations

Medicine, Hematology, Neurology +16

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Anke Penno, Mary M. Reilly, Henry Houlden et al. · Journal of Biological Chemistry · 2010 · 378 citations · Full text

Medicine, Neurobiology, Neuroscience +17

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

Gongshe Han, Sita D. Gupta, Kenneth Gable et al. · Proceedings of the National Academy of Sciences · 2009 · 269 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Marin L. Gantner, Kevin Eade, Martina Wallace et al. · New England Journal of Medicine · 2019 · 255 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

Kevin Garofalo, Anke Penno, Brian P. Schmidt et al. · Journal of Clinical Investigation · 2011 · 211 citations

Life Sciences, Neurology, Neuroscience +15