251 related articles for article (PubMed ID: 16271825)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. 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; 27(3):261-2. PubMed ID: 11242106
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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
Hum Mutat; 2011 Jun; 32(6):E2211-25. PubMed ID: 21618344
[TBL] [Abstract][Full Text] [Related]
6. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Verhoeven K; Coen K; De Vriendt E; Jacobs A; Van Gerwen V; Smouts I; Pou-Serradell A; Martin JJ; Timmerman V; De Jonghe P
Neurology; 2004 Mar; 62(6):1001-2. PubMed ID: 15037712
[TBL] [Abstract][Full Text] [Related]
7. SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
Klein CJ; Wu Y; Kruckeberg KE; Hebbring SJ; Anderson SA; Cunningham JM; Dyck PJ; Klein DM; Thibodeau SN; Dyck PJ
J Neurol Neurosurg Psychiatry; 2005 Jul; 76(7):1022-4. PubMed ID: 15965219
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
Geraldes R; de Carvalho M; Santos-Bento M; Nicholson G
J Neurol Sci; 2004 Dec; 227(1):35-8. PubMed ID: 15546589
[TBL] [Abstract][Full Text] [Related]
11. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh BC; Hong YB; Nakhro K; Nam SH; Chung KW; Choi BO
Mol Med Rep; 2014 Feb; 9(2):481-6. PubMed ID: 24247255
[TBL] [Abstract][Full Text] [Related]
12. Hereditary sensory neuropathy: a case with pain and temperature dissociation.
O'Brien B; Jackson R; Tang-Wai R; Lewis AJ; Atack EA
Can J Neurol Sci; 1980 Feb; 7(1):73-6. PubMed ID: 6930314
[TBL] [Abstract][Full Text] [Related]
13. Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
Auer-Grumbach M; Bode H; Pieber TR; Schabhüttl M; Fischer D; Seidl R; Graf E; Wieland T; Schuh R; Vacariu G; Grill F; Timmerman V; Strom TM; Hornemann T
Eur J Med Genet; 2013 May; 56(5):266-9. PubMed ID: 23454272
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.
Spring PJ; Kok C; Nicholson GA; Ing AJ; Spies JM; Bassett ML; Cameron J; Kerlin P; Bowler S; Tuck R; Pollard JD
Brain; 2005 Dec; 128(Pt 12):2797-810. PubMed ID: 16311270
[TBL] [Abstract][Full Text] [Related]
15. Two brothers with a variant of hereditary sensory neuropathy.
Pavone L; Huttenlocher P; Siciliano L; Micali G; Rizzo R; Anastasi M; Maimone D; Woolmann R
Neuropediatrics; 1992 Apr; 23(2):92-5. PubMed ID: 1376446
[TBL] [Abstract][Full Text] [Related]
16. [A case of hereditary sensory autonomic neuropathy type II with late onset].
Shimoya K; Ishimoto S; Ohnishi A; Yamamoto T
Rinsho Shinkeigaku; 1999 May; 39(5):551-4. PubMed ID: 10424148
[TBL] [Abstract][Full Text] [Related]
17. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.
Nicholson GA; Dawkins JL; Blair IP; Kennerson ML; Gordon MJ; Cherryson AK; Nash J; Bananis T
Nat Genet; 1996 May; 13(1):101-4. PubMed ID: 8673084
[TBL] [Abstract][Full Text] [Related]
18. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
19. No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.
Toscano E; Simonati A; Indo Y; Andria G
Ann Neurol; 2002 Aug; 52(2):224-7. PubMed ID: 12210794
[TBL] [Abstract][Full Text] [Related]
20. Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy.
Sone J; Hishikawa N; Koike H; Hattori N; Hirayama M; Nagamatsu M; Yamamoto M; Tanaka F; Yoshida M; Hashizume Y; Imamura H; Yamada E; Sobue G
Neurology; 2005 Nov; 65(10):1538-43. PubMed ID: 16301479
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]