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2. Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes. Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB. Am J Med Genet; 1996 Sep 06; 64(4):594-601. PubMed ID: 8870928 [Abstract] [Full Text] [Related]
5. "Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus. Keats BJ, Ward LJ, Shaw J, Wickremasinghe A, Chamberlain S. Am J Med Genet; 1989 Jun 06; 33(2):266-8. PubMed ID: 2764036 [Abstract] [Full Text] [Related]
7. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Nat Genet; 2001 Oct 06; 29(2):184-8. PubMed ID: 11586299 [Abstract] [Full Text] [Related]
10. 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 06; 41(6):826-32. PubMed ID: 9189046 [Abstract] [Full Text] [Related]
16. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus. Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M. Am J Hum Genet; 1992 Dec 06; 51(6):1372-6. PubMed ID: 1463017 [Abstract] [Full Text] [Related]
18. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. Duclos F, Boschert U, Sirugo G, Mandel JL, Hen R, Koenig M. Proc Natl Acad Sci U S A; 1993 Jan 01; 90(1):109-13. PubMed ID: 7678331 [Abstract] [Full Text] [Related]