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7. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Nat Genet; 2001 Mar; 27(3):309-12. PubMed ID: 11242114 [Abstract] [Full Text] [Related]
8. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L. Ann Neurol; 2004 Oct; 56(4):586-90. PubMed ID: 15455439 [Abstract] [Full Text] [Related]
9. Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Dawkins JL, Brahmbhatt S, Auer-Grumbach M, Wagner K, Hartung HP, Verhoeven K, Timmerman V, De Jonghe P, Kennerson M, LeGuern E, Nicholson GA. Neuromuscul Disord; 2002 Oct; 12(7-8):656-8. PubMed ID: 12207934 [Abstract] [Full Text] [Related]
10. Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Bi H, Gao Y, Yao S, Dong M, Headley AP, Yuan Y. Neuropathology; 2007 Oct; 27(5):429-33. PubMed ID: 18018475 [Abstract] [Full Text] [Related]
11. Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings. Lindahl AJ, Lhatoo SD, Campbell MJ, Nicholson G, Love S. Clin Neurol Neurosurg; 2006 Dec; 108(8):780-3. PubMed ID: 16271825 [Abstract] [Full Text] [Related]
19. Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. Gable K, Han G, Monaghan E, Bacikova D, Natarajan M, Williams R, Dunn TM. J Biol Chem; 2002 Mar 22; 277(12):10194-200. PubMed ID: 11781309 [Abstract] [Full Text] [Related]
20. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH. Nat Genet; 2001 Mar 22; 27(3):261-2. PubMed ID: 11242106 [Abstract] [Full Text] [Related] Page: [Next] [New Search]