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Results: 7

1.

Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.

Iwasa K, Shima K, Komai K, Nishida Y, Yokota T, Yamada M.

J Neurol Sci. 2014 Oct 15;345(1-2):228-30. doi: 10.1016/j.jns.2014.07.001. Epub 2014 Jul 9.

PMID:
25066259
2.

Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency.

Bromley D, Anderson PC, Daggett V.

Biochemistry. 2013 Jun 18;52(24):4264-73. doi: 10.1021/bi4001084. Epub 2013 Jun 10.

3.

α-Tocopheryl phosphate--an activated form of vitamin E important for angiogenesis and vasculogenesis?

Zingg JM, Meydani M, Azzi A.

Biofactors. 2012 Jan-Feb;38(1):24-33. doi: 10.1002/biof.198. Epub 2012 Jan 27. Review.

PMID:
22281871
4.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M.

Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.

PMID:
19440741
5.

Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein.

Qian J, Atkinson J, Manor D.

Biochemistry. 2006 Jul 11;45(27):8236-42.

PMID:
16819822
6.

Friedreich's Ataxia: disease mechanisms, antioxidant and Coenzyme Q10 therapy.

Cooper JM, Schapira AH.

Biofactors. 2003;18(1-4):163-71. Review.

PMID:
14695932
7.

Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency.

Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F.

Eur J Neurol. 2001 Sep;8(5):477-81.

PMID:
11554913
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