Associated Papers
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
39859398 (PubMed )
Supplement: ijms-26-00684-s001.zip › 20241023_Table_S4.pdf
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
Wilson LMQ et al.
Genes, 2023
Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
Rodrigues FG et al.
Journal of the Peripheral Nervous System : Jpns, 2022
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
Demyelination in hereditary sensory neuropathy type-1C.
Saba S et al.
Annals of Clinical and Translational Neurology, 2020
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Suriyanarayanan S et al.
Neuromolecular Medicine, 2019
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H et al.
Human Molecular Genetics, 2016
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan S et al.
Neuromolecular Medicine, 2016
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
26392352 (PubMed )
Supplement: 12881_2015_224_MOESM1_ESM.xlsx › ST1
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.
Ernst D et al.
Neuromolecular Medicine, 2015
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L et al.
Journal of Inherited Metabolic Disease, 2015
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
Murphy SM et al.
Neurology, 2013
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