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4. Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. Auranen M; Toppila J; Suriyanarayanan S; Lone MA; Paetau A; Tyynismaa H; Hornemann T; Ylikallio E Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29042446 [TBL] [Abstract][Full Text] [Related]
5. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Murphy SM; Ernst D; Wei Y; Laurà M; Liu YT; Polke J; Blake J; Winer J; Houlden H; Hornemann T; Reilly MM Neurology; 2013 Jun; 80(23):2106-11. PubMed ID: 23658386 [TBL] [Abstract][Full Text] [Related]
6. Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Ernst D; Murphy SM; Sathiyanadan K; Wei Y; Othman A; Laurá M; Liu YT; Penno A; Blake J; Donaghy M; Houlden H; Reilly MM; Hornemann T Neuromolecular Med; 2015 Mar; 17(1):47-57. PubMed ID: 25567748 [TBL] [Abstract][Full Text] [Related]
7. Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. Gantner ML; Eade K; Wallace M; Handzlik MK; Fallon R; Trombley J; Bonelli R; Giles S; Harkins-Perry S; Heeren TFC; Sauer L; Ideguchi Y; Baldini M; Scheppke L; Dorrell MI; Kitano M; Hart BJ; Cai C; Nagasaki T; Badur MG; Okada M; Woods SM; Egan C; Gillies M; Guymer R; Eichler F; Bahlo M; Fruttiger M; Allikmets R; Bernstein PS; Metallo CM; Friedlander M N Engl J Med; 2019 Oct; 381(15):1422-1433. PubMed ID: 31509666 [TBL] [Abstract][Full Text] [Related]
8. Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy. McCampbell A; Truong D; Broom DC; Allchorne A; Gable K; Cutler RG; Mattson MP; Woolf CJ; Frosch MP; Harmon JM; Dunn TM; Brown RH Hum Mol Genet; 2005 Nov; 14(22):3507-21. PubMed ID: 16210380 [TBL] [Abstract][Full Text] [Related]
9. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. Garofalo K; Penno A; Schmidt BP; Lee HJ; Frosch MP; von Eckardstein A; Brown RH; Hornemann T; Eichler FS J Clin Invest; 2011 Dec; 121(12):4735-45. PubMed ID: 22045570 [TBL] [Abstract][Full Text] [Related]
10. HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. Bode H; Bourquin F; Suriyanarayanan S; Wei Y; Alecu I; Othman A; Von Eckardstein A; Hornemann T Hum Mol Genet; 2016 Mar; 25(5):853-65. PubMed ID: 26681808 [TBL] [Abstract][Full Text] [Related]
12. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment. Fiorillo C; Capodivento G; Geroldi A; Tozza S; Moroni I; Mohassel P; Cataldi M; Campana C; Morando S; Panicucci C; Pedemonte M; Brolatti N; Siliquini S; Traverso M; Baratto S; Debellis D; Magri S; Prada V; Bellone E; Salpietro V; Donkervoort S; Gable K; Gupta SD; Dunn TM; Bönnemann CG; Taroni F; Bruno C; Schenone A; Mandich P; Nobbio L; Nolano M Neuropathol Appl Neurobiol; 2022 Dec; 48(7):e12842. PubMed ID: 35904184 [TBL] [Abstract][Full Text] [Related]
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14. Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. Triplett J; Nicholson G; Sue C; Hornemann T; Yiannikas C J Peripher Nerv Syst; 2019 Jun; 24(2):224-229. PubMed ID: 30866134 [TBL] [Abstract][Full Text] [Related]
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16. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Houlden H; King R; Blake J; Groves M; Love S; Woodward C; Hammans S; Nicoll J; Lennox G; O'Donovan DG; Gabriel C; Thomas PK; Reilly MM Brain; 2006 Feb; 129(Pt 2):411-25. PubMed ID: 16364956 [TBL] [Abstract][Full Text] [Related]
17. 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 Am J Hum Genet; 2010 Oct; 87(4):513-22. PubMed ID: 20920666 [TBL] [Abstract][Full Text] [Related]
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19. 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 [TBL] [Abstract][Full Text] [Related]
20. Demyelination in hereditary sensory neuropathy type-1C. Saba S; Chen Y; Maddipati KR; Hackett M; Hu B; Li J Ann Clin Transl Neurol; 2020 Sep; 7(9):1502-1512. PubMed ID: 32730653 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]