Genetics, cell biology and a novel mechanism for ALS
Author:
Publisher
BMJ
Subject
Psychiatry and Mental health,Neurology (clinical),Surgery
Reference6 articles.
1. Syeda SB , Lone MA , Mohassel P , et al . A recurrent de novo Sptlc2 variant causes childhood-onset Amyotrophic lateral sclerosis (ALS) by excess Sphingolipid synthesis. J Neurol Neurosurg Psychiatry 2023. doi:10.1136/jnnp-2023-332132
2. Wigger D , Gulbins E , Kleuser B , et al . Monitoring the sphingolipid de novo synthesis by stable-isotope labeling and liquid chromatography-mass spectrometry. Front Cell Dev Biol 2019;7:210. doi:10.3389/fcell.2019.00210
3. Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
4. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
5. Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1
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