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Updated: Apr 23, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Ahmet Okay Caglayan1, Sinan Comu2, Jacob F Baranoski1

  • 1Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA.

European Journal of Medical Genetics
|September 16, 2014
PubMed

Keywords:
DeglycosylationIntellectual disabilityNGLY1Neuromotor defectWhole-exome sequencing

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