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publication
Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8(+) T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness
2019 |
2. lékařská fakulta
publication
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
2023 |
2. lékařská fakulta
publication
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020 |
1. lékařská fakulta
publication
Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I
2010 |
2. lékařská fakulta
publication
Genetic pain loss disorders
2022 |
2. lékařská fakulta