- Ernst et al. (2015) – Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That is Involved in Regulating Substrate Specificity
- Othman et al. (2015) – Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats
Fridman et al. (2015) – Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1- Myers et al. (2014) – Mutations in the SPTLC1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts
- Suh et al. (2014) – Early-Onset Severe Hereditary Sensory and Autonomic Neuropathy Type 1 with S331F SPTLC1 Mutation
- Murphy et al. (2013) – HSAN1 Caused by a Novel Mutation in SPTLC2
- Auer-Grumbach et al. (2013) – Mutations at Ser331 in the HSN Type I Gene SPTLC1 are Associated with a Distinct Syndromic Phenotype
- Garofolo et al. (2011) – Oral L-serine supplementation reduces production of neurotoxic dSLs in mice and humans with HSAN1
- Scherer et al. (2011) – The Debut of a Rational Treatment for an Inherited Neuropathy?
- Rotthier et al. (2011) – Characterization of Two Mutations in SPTLC1 Subunit of SPT Associated with HSAN1
- Rotthier et al. (2010) – Mutations in the SPTLC2 Subunit of SPT Cause HSAN1
- Bertea et al. (2010) – DSBs as Plasma Markers in Diabetes Mellitus
- Penno et al. (2010) – HSAN1 is Caused by the Accumulation of Two Neurotoxic Sphingolipids
- Eichler et al. (2009) – Overexpression of WT SPT1 Lowers DSB Levels and Rescues Phenotype of HSAN1
- McCampbell et al. (2005) – HSAN1 Mouse Model
- Bejaoui et al. (2001) – SPTLC1 is Mutated in HSAN1
- Bejaoui et al. (1999) – Genetic Linkage of HSAN1
- Tocantins & Reimann (1939) – Perforating Ulcer