Paul Marcogliese

Baylor College of Medicine - Department of Molecular and Human Genetics

Houston, TX 77030

United States

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Scholarly Papers (1)

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Loss or Gain of Function Mutations in ACOX1 Cause Axonal Loss Via Different Mechanisms

NEURON-D-19-01325
Number of pages: 67 Posted: 29 Aug 2019
Baylor College of Medicine - Howard Hughes Medical Institute, Baylor College of Medicine - Department of Molecular and Human Genetics, Baylor College of Medicine - Department of Molecular and Human Genetics, Texas Children's Hospital - Jan and Dan Duncan Neurologic Research Institute, Baylor College of Medicine - Department of Molecular and Human Genetics, Baylor College of Medicine - Howard Hughes Medical Institute, Harvard University - Department of Psychology, Baylor College of Medicine - Department of Molecular and Human Genetics, Washington University in St. Louis - Division of Neuropathology, Washington University in St. Louis - Division of Neuropathology, Baylor College of Medicine - Department of Molecular and Human Genetics, Baylor College of Medicine - Department of Molecular and Human Genetics, Washington University in St. Louis - Division of Neuropathology, Baylor College of Medicine - Department of Molecular and Human Genetics, affiliation not provided to SSRN, Cincinnati Children's Hospital Medical Center - Division of Human Genetics, University of Cincinnati - Department of Pediatrics, Cincinnati Children's Hospital Medical Center - Division of Human Genetics, University of Cincinnati - Department of Pediatrics, University of Cincinnati - Department of Pediatrics, Baylor College of Medicine - Department of Molecular and Human Genetics, Johns Hopkins University - Division of Neurogenetics, Johns Hopkins University - Division of Neurogenetics, Seoul National University - Department of Biomedical Sciences, Washington University in St. Louis - Department of Neurology, Seoul National University - Department of Biomedical Sciences, Washington University in St. Louis - Department of Neurology, Baylor College of Medicine - Department of Molecular and Human Genetics, Seoul National University - Department of Pediatrics, Cincinnati Children's Hospital Medical Center - Division of Human Genetics, Seoul National University - Department of Pediatrics, University of Chicago - Section of Rheumatology and Baylor College of Medicine - Howard Hughes Medical Institute
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Abstract:

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Personalized medicine, Mitchell Disease, Lipid metabolism, Very long chain fatty acids, ROS, Peroxisome, Schwann cell, Bezafibrate, Wrapping glial, Drosophila, ACOX1 deficiency, Undiagnosed Disease Network, Rare disease