Citations for
1AVED, TTPA
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.
Hoshino M, et al.
Ann Neurol 45(6):809-12. 1999
2AVED, TTPA
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 62(2):301-10. 1998
3AVED, TTPA
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 41(6):826-32. 1997
4AVED, TTPA
Human alpha-tocopherol transfer protein : gene structure and mutations in familial vitamin E deficiency.
Hentati A, et al.
Ann Neurol 39 : 295-300. 1996
5AVED, TTPA
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.
Ouahchi K, et al.
Nat Genet 9 : 141-145. 1995
6AVED, TTPA
Adult-onset spinocerebellar dysfunction caused by a mutation in the genefor the alpha-tocopherol-transfer protein.
Gotoda T, et al.
N Engl J Med 333 : 1313-1318. 1995
7AVED, TTPA
Ataxia with vitamin E deficiency : refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.
Doerflinger N, et al.
Am J Hum Genet 56 : 1116-1124. 1995
8AVED
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.
Ben Hamida M, et al.
Neurology 43 : 2179-2183. 1993
9AVED
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping.
Ben Hamida C, et al.
Nat Genet 5 : 195-200. 1993