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Journal Abstract Search

205 related items for PubMed ID: 17720498

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  • 2. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
    Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B.
    Ann Neurol; 2005 Mar; 57(3):408-14. PubMed ID: 15732101
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  • 5. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M.
    Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
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  • 6. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A, Yamagata T, Mori M, Momoi MY.
    Pediatr Neurol; 2005 Jul; 33(1):53-6. PubMed ID: 15876520
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  • 9. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene.
    Haack T, Friday D, Bender A, Rolfs A, Klopstock T.
    J Neurol; 2009 Sep; 256(9):1555-7. PubMed ID: 19377860
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  • 16. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
    Fogel BL, Perlman S.
    Neurology; 2006 Dec 12; 67(11):2083-4. PubMed ID: 17159128
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  • 17. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.
    Huo YK, Wang Z, Hong JH, Chessa L, McBride WH, Perlman SL, Gatti RA.
    Cancer Res; 1994 May 15; 54(10):2544-7. PubMed ID: 8168076
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  • 19. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
    Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Sekijima Y, Maruta K, Tsuchiya M, Date H, Sato T, Tada M, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O.
    Brain; 2011 May 15; 134(Pt 5):1387-99. PubMed ID: 21486904
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