Associated Papers
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Naruse H et al.
Annals of Clinical and Translational Neurology, 2024
38316966 (PubMed )
Supplement: ACN3-11-946-s001.pdf
Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
Wilson LMQ et al.
Genes, 2023
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Nam SH et al.
Molecules and Cells, 2016
Select a paper to view details