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Items: 1 to 20 of 228

1.

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
2.

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
3.

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.

4.

[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
5.

Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis.

Alex G, Oliver MR, Collins KJ.

J Paediatr Child Health. 2000 Oct;36(5):515-6.

PMID:
11036814
6.

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
7.

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
8.

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.

PMID:
15681888
9.

Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.

Martinello F, Fardin P, Ottina M, Ricchieri GL, Koenig M, Cavalier L, Trevisan CP.

J Neurol Sci. 1998 Apr 1;156(2):177-9.

PMID:
9588854
10.

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
11.

Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Yokota T, Shiojiri T, Gotoda T, Arai H.

N Engl J Med. 1996 Dec 5;335(23):1770-1. No abstract available.

12.

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
13.

Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene.

Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J.

Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6.

PMID:
11754917
14.

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
15.

Vitamin E deficiency ataxia associated with adenoma.

Benomar A, Yahyaoui M, Marzouki N, Birouk N, Bouslam N, Belaidi H, Amarti A, Ouazzani R, Chkili T.

J Neurol Sci. 1999 Jan 1;162(1):97-101.

PMID:
10064178
16.

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
17.

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
18.

[Ataxia due to vitamin E deficiency].

Gjerde IO, Storstein A, Skeie GO, Wester K, Hegrestad S, Houge G.

Tidsskr Nor Laegeforen. 1998 Aug 30;118(20):3126-8. Norwegian.

PMID:
9760855
19.

Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP.

Shiojiri T, Yokota T, Fujimori N, Mizusawa H.

J Neurol. 1999 Oct;246(10):982. No abstract available.

PMID:
10552255
20.

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

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