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Items: 1 to 20 of 108

1.

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
2.

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
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.

PMID:
15953402
5.

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
6.

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.

PMID:
17049453
7.

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N.

N Engl J Med. 1995 Nov 16;333(20):1313-8.

8.

[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
9.

Cerebellar ataxia due to isolated vitamin E deficiency.

Jayaram S, Soman A, Tarvade S, Londhe V.

Indian J Med Sci. 2005 Jan;59(1):20-3.

10.

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
11.

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
12.

alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

Tamaru Y, Hirano M, Kusaka H, Ito H, Imai T, Ueno S.

Neurology. 1997 Aug;49(2):584-8.

PMID:
9270601
13.

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
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.

Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia.

Hammans SR, Kennedy CR.

J Neurol Neurosurg Psychiatry. 1998 Mar;64(3):368-70.

16.

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
17.

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
18.

Molecular genetic and expression analysis of alpha-tocopherol transfer protein mRNA in German shepherd dogs with degenerative myelopathy.

Fechner H, Johnston PE, Sharp NJ, Montague P, Griffiths IR, Wang X, Olby N, Looman AC, Poller W, Flegel T.

Berl Munch Tierarztl Wochenschr. 2003 Jan-Feb;116(1-2):31-6.

PMID:
12592926
19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
20.
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