1. Sphingolipidoses and Related Disorders
   Annie Laquerrière et al, 2018, Developmental Neuropathology CrossRef
2. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
   Chiara Fiorillo et al, 2022, Neuropathology and Applied Neurobiology CrossRef
3. Interdigital Hyperplasia in Holstein Cattle Is Associated With a Missense Mutation in the Signal Peptide Region of the Tyrosine-Protein Kinase Transmembrane Receptor Gene
   Xuying Zhang et al, 2019, Frontiers in Genetics CrossRef
4. V144D Mutation ofSPTLC1Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
   Kwo Wei David Ho et al, 2018, Case Reports in Genetics CrossRef
5. Familial congenital bilateral vocal fold paralysis: A novel gene translocation
   Amy K Hsu et al, 2015, International Journal of Pediatric Otorhinolaryngology CrossRef
6. HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship
   Heiko Bode et al, 2016, Human Molecular Genetics CrossRef
7. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
   Museer A. Lone et al, 2022, Journal of Clinical Investigation CrossRef
8. Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China
   Yongzhi Xie et al, 2021, European Journal of Neurology CrossRef
9. Human genetic disorders of sphingolipid biosynthesis
   Leonardo Astudillo et al, 2015, Journal of Inherited Metabolic Disease CrossRef
10. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
    Payam Mohassel et al, 2021, Nature Medicine CrossRef
11. Cytotoxicity of 1-deoxysphingolipid unraveled by genome-wide genetic screens and lipidomics in Saccharomyces cerevisiae
    A. Galih Haribowo et al, 2019, Molecular Biology of the Cell CrossRef
12. Expanding the spectrum of SPTLC1‐related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct “S331 syndrome”
    Fabiana Rossi et al, 2020, Journal of the Peripheral Nervous System CrossRef
13. The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
    Àngels Garcia‐Cazorla et al, 2015, Journal of Inherited Metabolic Disease CrossRef
14. SWATH Based Quantitative Proteomics Reveals Significant Lipid Metabolism in Early Myopic Guinea Pig Retina
    Jingfang Bian et al, 2021, International Journal of Molecular Sciences CrossRef
15. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
    Alex J. Clark et al, 2021, Cell Reports Medicine CrossRef
16. A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C
    Saranya Suriyanarayanan et al, 2019, NeuroMolecular Medicine CrossRef
17. Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing
    Young-gon Kim et al, 2023, Brain Communications CrossRef