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Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V. Rotthier A, et al. Among authors: hornemann t. Am J Hum Genet. 2010 Oct 8;87(4):513-22. doi: 10.1016/j.ajhg.2010.09.010. Am J Hum Genet. 2010. PMID: 20920666 Free PMC article.
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K. Rotthier A, et al. Among authors: hornemann t. Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21618344 Free article.
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: hornemann t. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L, Sabourdy F, Therville N, Bode H, Ségui B, Andrieu-Abadie N, Hornemann T, Levade T. Astudillo L, et al. Among authors: hornemann t. J Inherit Metab Dis. 2015 Jan;38(1):65-76. doi: 10.1007/s10545-014-9736-1. Epub 2014 Aug 21. J Inherit Metab Dis. 2015. PMID: 25141825 Review.
145 results