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Items: 1 to 20 of 159

1.

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.

Usuki F, Maruyama K.

J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):254-6.

2.

Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene.

Yokota T, Uchihara T, Kumagai J, Shiojiri T, Pang JJ, Arita M, Arai H, Hayashi M, Kiyosawa M, Okeda R, Mizusawa H.

J Neurol Neurosurg Psychiatry. 2000 Apr;68(4):521-5.

3.

Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.

Yokota T, Shiojiri T, Gotoda T, Arita M, Arai H, Ohga T, Kanda T, Suzuki J, Imai T, Matsumoto H, Harino S, Kiyosawa M, Mizusawa H, Inoue K.

Ann Neurol. 1997 Jun;41(6):826-32.

PMID:
9189046
4.

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
5.

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
6.

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.

7.

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
8.

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
9.

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
10.

Ataxia with vitamin E deficiency: update of molecular diagnosis.

Di Donato I, Bianchi S, Federico A.

Neurol Sci. 2010 Aug;31(4):511-5. doi: 10.1007/s10072-010-0261-1. Epub 2010 May 13. Review.

PMID:
20464573
11.

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.

12.

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
13.

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.

14.

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
15.

[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
16.

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
17.

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.

18.

Ataxia with vitamin E deficiency associated with deafness.

Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H.

Turk J Pediatr. 2008 Sep-Oct;50(5):471-5.

19.

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
20.

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
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