| 1 | TTPA
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| A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.
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| Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S.
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| Arch Neurol 59(12):1952-3. 2002
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| 2 | AVED, TTPA
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| Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.
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| Hoshino M, et al.
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| Ann Neurol 45(6):809-12. 1999
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| 3 | AVED, TTPA
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| Ataxia with isolated vitamin E deficiency : heterogeneity of mutations and phenotypic variability in a large number of families.
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| Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.
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| Am J Hum Genet 62(2):301-10. 1998
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| 4 | AVED, TTPA
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| Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene.
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| 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.
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| Ann Neurol 41(6):826-32. 1997
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| 5 | AVED, TTPA
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| Human alpha-tocopherol transfer protein : gene structure and mutations in familial vitamin E deficiency.
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| Hentati A, et al.
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| Ann Neurol 39 : 295-300. 1996
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| 6 | AVED, TTPA
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| Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
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| Ouahchi K, et al.
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| Nat Genet 9 : 141-145. 1995
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| 7 | AVED, TTPA
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| Adult-onset spinocerebellar dysfunction caused by a mutation in the genefor the alpha-tocopherol-transfer protein.
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| Gotoda T, et al.
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| N Engl J Med 333 : 1313-1318. 1995
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| 8 | AVED, TTPA
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| Ataxia with vitamin E deficiency : refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.
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| Doerflinger N, et al.
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| Am J Hum Genet 56 : 1116-1124. 1995
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| 9 | TTPA
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| Human alpha-tocopherol transfer protein : cDNA cloning, expression and chromosomal localization.
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| Arita M, et al.
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| Biochem J 306 : 437-443. 1995
|