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Items: 1 to 20 of 21

1.

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 8;87(4):513-22. doi: 10.1016/j.ajhg.2010.09.010.

2.

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism.

Hanada K.

Biochim Biophys Acta. 2003 Jun 10;1632(1-3):16-30. Review. Erratum in: Biochim Biophys Acta. 2004 Jun 1;1682(1-3):128.

PMID:
12782147
3.

[Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].

Takashima H.

Rinsho Shinkeigaku. 2014;54(12):957-9. doi: 10.5692/clinicalneurol.54.957. Review. Japanese.

PMID:
25672680
4.

Disease mechanisms in hereditary sensory and autonomic neuropathies.

Verpoorten N, De Jonghe P, Timmerman V.

Neurobiol Dis. 2006 Feb;21(2):247-55. Review.

PMID:
16183296
5.

From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.

Capsoni S.

Eur J Neurosci. 2014 Feb;39(3):392-400. doi: 10.1111/ejn.12461. Review.

PMID:
24494679
6.

Recent advances in hereditary sensory and autonomic neuropathies.

Verhoeven K, Timmerman V, Mauko B, Pieber TR, De Jonghe P, Auer-Grumbach M.

Curr Opin Neurol. 2006 Oct;19(5):474-80. Review.

PMID:
16969157
7.

Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method.

Yozu A, Haga N, Funato T, Owaki D, Chiba R, Ota J.

Neurosci Res. 2016 Mar;104:105-11. doi: 10.1016/j.neures.2015.10.011. Review.

PMID:
26562335
8.

1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma.

Duan J, Merrill AH Jr.

J Biol Chem. 2015 Jun 19;290(25):15380-9. doi: 10.1074/jbc.R115.658823. Review.

9.

Hereditary sensory neuropathies.

Houlden H, Blake J, Reilly MM.

Curr Opin Neurol. 2004 Oct;17(5):569-77. Review.

PMID:
15367861
10.

Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies.

Mroczek M, Kabzińska D, Kochański A.

Acta Neurobiol Exp (Wars). 2015;75(2):126-43. Review.

11.

Hereditary sensory neuropathy type I.

Auer-Grumbach M.

Orphanet J Rare Dis. 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. Review.

12.

Hereditary sensory and autonomic neuropathies.

Auer-Grumbach M.

Handb Clin Neurol. 2013;115:893-906. doi: 10.1016/B978-0-444-52902-2.00050-3. Review.

PMID:
23931820
13.

Regulation of de novo sphingolipid biosynthesis and the toxic consequences of its disruption.

Linn SC, Kim HS, Keane EM, Andras LM, Wang E, Merrill AH Jr.

Biochem Soc Trans. 2001 Nov;29(Pt 6):831-5. Review.

PMID:
11709083
14.
15.

Hereditary sensory and autonomic neuropathies: types II, III, and IV.

Axelrod FB, Gold-von Simson G.

Orphanet J Rare Dis. 2007 Oct 3;2:39. Review.

16.

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Rotthier A, Baets J, Timmerman V, Janssens K.

Nat Rev Neurol. 2012 Jan 24;8(2):73-85. doi: 10.1038/nrneurol.2011.227. Review.

PMID:
22270030
17.

Structural, mechanistic and regulatory studies of serine palmitoyltransferase.

Lowther J, Naismith JH, Dunn TM, Campopiano DJ.

Biochem Soc Trans. 2012 Jun 1;40(3):547-54. doi: 10.1042/BST20110769. Review.

PMID:
22616865
18.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
19.

Hereditary sensory and autonomic neuropathy types IV and V in Japan.

Haga N, Kubota M, Miwa Z; Japanese Research Group on Congenital Insensitivity to Pain..

Pediatr Int. 2015;57(1):30-6. doi: 10.1111/ped.12538. Review.

PMID:
25422087
20.

Inherited autonomic neuropathies.

Axelrod FB, Hilz MJ.

Semin Neurol. 2003 Dec;23(4):381-90. Review.

PMID:
15088259
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