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Results: 1 to 20 of 92

1.

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease.

Zyss J, Béhin A, Couvert P, Bouhour F, Sassolas A, Kolev I, Denys V, Vial C, Lacour A, Carrié A, Stojkovic T.

J Neurol. 2012 Jun;259(6):1222-6. doi: 10.1007/s00415-011-6340-2. Epub 2011 Dec 17.

PMID:
22179783
[PubMed - indexed for MEDLINE]
2.

Lewis-Sumner syndrome and Tangier disease.

Théaudin M, Couvert P, Fournier E, Bouige D, Bruckert E, Perrotte P, Vaschalde Y, Maisonobe T, Bonnefont-Rousselot D, Carrié A, Le Forestier N.

Arch Neurol. 2008 Jul;65(7):968-70. doi: 10.1001/archneur.65.7.968.

PMID:
18625867
[PubMed - indexed for MEDLINE]
3.

Peripheral neuropathy in Tangier disease.

Pollock M, Nukada H, Frith RW, Simcock JP, Allpress S.

Brain. 1983 Dec;106 ( Pt 4):911-28.

PMID:
6317140
[PubMed - indexed for MEDLINE]
4.

Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations.

Mott S, Yu L, Marcil M, Boucher B, Rondeau C, Genest J Jr.

Atherosclerosis. 2000 Oct;152(2):457-68.

PMID:
10998475
[PubMed - indexed for MEDLINE]
5.

Tangier disease: epidemiology, pathophysiology, and management.

Puntoni M, Sbrana F, Bigazzi F, Sampietro T.

Am J Cardiovasc Drugs. 2012 Oct 1;12(5):303-11. doi: 10.2165/11634140-000000000-00000.

PMID:
22913675
[PubMed - indexed for MEDLINE]
6.

Tangier disease four decades of research: a reflection of the importance of HDL.

Kolovou GD, Mikhailidis DP, Anagnostopoulou KK, Daskalopoulou SS, Cokkinos DV.

Curr Med Chem. 2006;13(7):771-82. Review.

PMID:
16611066
[PubMed - indexed for MEDLINE]
7.

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM.

Brain. 2003 Apr;126(Pt 4):920-7. Erratum in: Brain. 2003 Sep;126(Pt 9):2115.

PMID:
12615648
[PubMed - indexed for MEDLINE]
Free Article
8.

Homozygous Tangier disease and cardiovascular disease.

Serfaty-Lacrosniere C, Civeira F, Lanzberg A, Isaia P, Berg J, Janus ED, Smith MP Jr, Pritchard PH, Frohlich J, Lees RS, et al.

Atherosclerosis. 1994 May;107(1):85-98. Review.

PMID:
7945562
[PubMed - indexed for MEDLINE]
9.

A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease.

Negi SI, Brautbar A, Virani SS, Anand A, Polisecki E, Asztalos BF, Ballantyne CM, Schaefer EJ, Jones PH.

J Clin Lipidol. 2013 Jan-Feb;7(1):82-7. doi: 10.1016/j.jacl.2012.09.004. Epub 2012 Sep 29. Erratum in: J Clin Lipidol. 2013 Jul-Aug;7(4):385.

PMID:
23351586
[PubMed - indexed for MEDLINE]
10.

Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

Ishii J, Nagano M, Kujiraoka T, Ishihara M, Egashira T, Takada D, Tsuji M, Hattori H, Emi M.

J Hum Genet. 2002;47(7):366-9.

PMID:
12111371
[PubMed - indexed for MEDLINE]
11.

Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.

Huang W, Moriyama K, Koga T, Hua H, Ageta M, Kawabata S, Mawatari K, Imamura T, Eto T, Kawamura M, Teramoto T, Sasaki J.

Biochim Biophys Acta. 2001 Jul 27;1537(1):71-8.

PMID:
11476965
[PubMed - indexed for MEDLINE]
Free Article
12.

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

Bodzioch M, Orsó E, Klucken J, Langmann T, Böttcher A, Diederich W, Drobnik W, Barlage S, Büchler C, Porsch-Ozcürümez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G.

Nat Genet. 1999 Aug;22(4):347-51.

PMID:
10431237
[PubMed - indexed for MEDLINE]
13.

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denèfle P, Assmann G.

Nat Genet. 1999 Aug;22(4):352-5.

PMID:
10431238
[PubMed - indexed for MEDLINE]
14.

Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size.

Brousseau ME, Eberhart GP, Dupuis J, Asztalos BF, Goldkamp AL, Schaefer EJ, Freeman MW.

J Lipid Res. 2000 Jul;41(7):1125-35.

PMID:
10884295
[PubMed - indexed for MEDLINE]
Free Article
15.

Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.

Guo Z, Inazu A, Yu W, Suzumura T, Okamoto M, Nohara A, Higashikata T, Sano R, Wakasugi K, Hayakawa T, Yoshida K, Suehiro T, Schmitz G, Mabuchi H.

J Hum Genet. 2002;47(6):325-9.

PMID:
12111381
[PubMed - indexed for MEDLINE]
16.

Screening for functional sequence variations and mutations in ABCA1.

Probst MC, Thumann H, Aslanidis C, Langmann T, Buechler C, Patsch W, Baralle FE, Dallinga-Thie GM, Geisel J, Keller C, Menys VC, Schmitz G.

Atherosclerosis. 2004 Aug;175(2):269-79.

PMID:
15262183
[PubMed - indexed for MEDLINE]
17.

A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.

Hooper AJ, Robertson K, Ng L, Kattampallil JS, Latchem D, Willsher PC, Thom J, Baker RI, Burnett JR.

Clin Chim Acta. 2009 Nov;409(1-2):136-9. doi: 10.1016/j.cca.2009.08.017. Epub 2009 Aug 31.

PMID:
19723515
[PubMed - indexed for MEDLINE]
18.

Tangier disease phenotype diversity in dizygous twin sisters.

Pichit P, Quillard M, Couvert P, Sénant J, Carrié A, Bittar R, Hannequin D, Guyant-Maréchal L.

Rev Neurol (Paris). 2010 May;166(5):534-7. doi: 10.1016/j.neurol.2009.12.001. Epub 2010 Jan 12.

PMID:
20070997
[PubMed - indexed for MEDLINE]
19.

Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.

Brousseau ME, Schaefer EJ, Dupuis J, Eustace B, Van Eerdewegh P, Goldkamp AL, Thurston LM, FitzGerald MG, Yasek-McKenna D, O'Neill G, Eberhart GP, Weiffenbach B, Ordovas JM, Freeman MW, Brown RH Jr, Gu JZ.

J Lipid Res. 2000 Mar;41(3):433-41. Erratum in: J Lipid Res 2001 Jan;42(1):155.

PMID:
10706591
[PubMed - indexed for MEDLINE]
Free Article
20.

Cholesterol and apolipoprotein B metabolism in Tangier disease.

Schaefer EJ, Brousseau ME, Diffenderfer MR, Cohn JS, Welty FK, O'Connor J Jr, Dolnikowski GG, Wang J, Hegele RA, Jones PJ.

Atherosclerosis. 2001 Nov;159(1):231-6.

PMID:
11689226
[PubMed - indexed for MEDLINE]

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