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2. 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; 333(20):1313-8. PubMed ID: 7566022 [TBL] [Abstract][Full Text] [Related]
3. [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. PubMed ID: 9773063 [TBL] [Abstract][Full Text] [Related]
4. [Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias]. Ben Hamida M; Attia-Romdhane N; Triki CH; Oueslati S; Hentati F Rev Neurol (Paris); 1991; 147(12):798-808. PubMed ID: 1780608 [TBL] [Abstract][Full Text] [Related]
5. [New insights in the molecular genetics and pathophysiology of hereditary ataxias]. Bürk K; Klockgether T; Dichgans J Nervenarzt; 1999 Jun; 70(6):491-5. PubMed ID: 10412692 [TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 11036814 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 9189046 [TBL] [Abstract][Full Text] [Related]
10. Molecular basis of the neurodegenerative disorders. Martin JB N Engl J Med; 1999 Jun; 340(25):1970-80. PubMed ID: 10379022 [No Abstract] [Full Text] [Related]
11. The genetic basis of ataxia. Rosenberg RN Clin Neurosci; 1995; 3(1):1-4. PubMed ID: 7614087 [TBL] [Abstract][Full Text] [Related]
12. Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration. De Silva R; Petty R; Loudon M; Frew C; Cooke A; Davidson R J Neurol Neurosurg Psychiatry; 1999 Jan; 66(1):117-8. PubMed ID: 9886474 [No Abstract] [Full Text] [Related]
13. [Study of taurine levels in the blood and urine of patients with hereditary spinocerebellar degeneration]. Magalov ShI; Arzumanova KG Zh Nevropatol Psikhiatr Im S S Korsakova; 1990; 90(3):16-20. PubMed ID: 2163160 [TBL] [Abstract][Full Text] [Related]
15. The hereditary ataxias: Where are we now? Four decades of local research. Smith DC; Greenberg LJ; Bryer A S Afr Med J; 2016 May; 106(6 Suppl 1):S38-41. PubMed ID: 27245522 [TBL] [Abstract][Full Text] [Related]
16. Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia. Kumar D; Blank CE Indian Pediatr; 1989 Oct; 26(10):1014-9. PubMed ID: 2630444 [TBL] [Abstract][Full Text] [Related]
17. Cognitive impairment in spinocerebellar degeneration. Kawai Y; Suenaga M; Watanabe H; Sobue G Eur Neurol; 2009; 61(5):257-68. PubMed ID: 19295212 [TBL] [Abstract][Full Text] [Related]
18. Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. Cellini E; Forleo P; Nacmias B; Tedde A; Bagnoli S; Piacentini S; Sorbi S Ann Neurol; 2004 Jul; 56(1):163; author reply 163-4. PubMed ID: 15236416 [No Abstract] [Full Text] [Related]