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Results: 1 to 20 of 107

Similar articles for PubMed (Select 7719340)

1.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M.

Nat Genet. 1995 Feb;9(2):141-5.

PMID:
7719340
2.

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.

Am J Hum Genet. 1998 Feb;62(2):301-10.

3.

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S.

Neurol Sci. 2004 Jul;25(3):130-7.

PMID:
15300460
4.

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, Benlemlih M.

Eur J Med Genet. 2005 Jan-Mar;48(1):21-8. Epub 2005 Feb 19.

PMID:
15953402
5.

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

Hentati A, Deng HX, Hung WY, Nayer M, Ahmed MS, He X, Tim R, Stumpf DA, Siddique T, Ahmed.

Ann Neurol. 1996 Mar;39(3):295-300.

PMID:
8602747
6.

Molecular determinants of heritable vitamin E deficiency.

Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D.

Biochemistry. 2004 Apr 13;43(14):4143-9.

PMID:
15065857
7.

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
8.

Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.

Hoshino M, Masuda N, Ito Y, Murata M, Goto J, Sakurai M, Kanazawa I.

Ann Neurol. 1999 Jun;45(6):809-12.

PMID:
10360777
9.

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Benomar A, Yahyaoui M, Meggouh F, Bouhouche A, Boutchich M, Bouslam N, Zaim A, Schmitt M, Belaidi H, Ouazzani R, Chkili T, Koenig M.

J Neurol Sci. 2002 Jun 15;198(1-2):25-9.

PMID:
12039660
10.

First case of ataxia with isolated vitamin E deficiency in the Netherlands.

Ponten SC, Kwee ML, Wolters ECh, Zijlmans JC.

Parkinsonism Relat Disord. 2007 Jul;13(5):315-6. Epub 2006 Oct 16.

PMID:
17049453
11.

Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.

Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F, et al.

Am J Hum Genet. 1995 May;56(5):1116-24.

12.
13.

Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization.

Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K.

Biochem J. 1995 Mar 1;306 ( Pt 2):437-43.

14.

Ataxia with vitamin E deficiency and severe dystonia: report of a case.

Roubertie A, Biolsi B, Rivier F, Humbertclaude V, Cheminal R, Echenne B.

Brain Dev. 2003 Sep;25(6):442-5.

PMID:
12907280
15.

The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.

Meier R, Tomizaki T, Schulze-Briese C, Baumann U, Stocker A.

J Mol Biol. 2003 Aug 15;331(3):725-34.

PMID:
12899840
16.

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

Fernández-Burriel M, Martínez-Rubio D, Lupo V, Pérez-Colosía V, Piñán-López E, Palau F, Espinós C.

Pediatr Res. 2008 Sep;64(3):262-4. doi: 10.1203/PDR.0b013e31817d9bf7.

PMID:
18458655
17.

Alpha-tocopherol transfer protein deficiency in mice causes multi-organ deregulation of gene networks and behavioral deficits with age.

Gohil K, Godzdanker R, O'Roark E, Schock BC, Kaini RR, Packer L, Cross CE, Traber MG.

Ann N Y Acad Sci. 2004 Dec;1031:109-26.

PMID:
15753139
18.

Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress.

Yokota T, Igarashi K, Uchihara T, Jishage K, Tomita H, Inaba A, Li Y, Arita M, Suzuki H, Mizusawa H, Arai H.

Proc Natl Acad Sci U S A. 2001 Dec 18;98(26):15185-90.

19.

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.

Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, Hübner C, Finckh B.

J Pediatr. 1999 Feb;134(2):240-4.

PMID:
9931538
20.

[Friedreich's ataxia and hereditary vitamin E deficiency. Case study].

Labauge P, Cavalier L, Ichalalène L, Castelnovo G.

Rev Neurol (Paris). 1998 May;154(4):339-41. French.

PMID:
9773063
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