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PUBMED FOR HANDHELDS

Journal Abstract Search


214 related items for PubMed ID: 10627938

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  • 2. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
    Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M, Dallapiccola B, Smania N, Fiaschi A, Tinazzi M.
    Mov Disord; 2006 Oct; 21(10):1782-4. PubMed ID: 16874761
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  • 5. Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran.
    Akbari MT, Zand Z, Shahidi GA, Hamid M.
    Med Princ Pract; 2012 Oct; 21(5):462-6. PubMed ID: 22487959
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  • 6. The DYT1 phenotype and guidelines for diagnostic testing.
    Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield X, Ozelius LJ, Risch NJ.
    Neurology; 2000 May 09; 54(9):1746-52. PubMed ID: 10802779
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  • 10. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.
    Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ.
    Ann Neurol; 1994 Nov 09; 36(5):771-7. PubMed ID: 7979224
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  • 11. Early onset torsion dystonia (Oppenheim's dystonia).
    Kamm C.
    Orphanet J Rare Dis; 2006 Nov 27; 1():48. PubMed ID: 17129379
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  • 14. Intrafamilial phenotypic and genetic heterogeneity of dystonia.
    Kostić VS, Svetel M, Kabakci K, Ristić A, Petrović I, Schüle B, Kock N, Djarmati A, Romac S, Klein C.
    J Neurol Sci; 2006 Dec 01; 250(1-2):92-6. PubMed ID: 17027035
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  • 16. Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.
    O'Riordan S, Cockburn D, Barton D, Lynch T, Hutchinson M.
    Ir J Med Sci; 2002 Dec 01; 171(1):31-2. PubMed ID: 11993591
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  • 19. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
    Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman A, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ.
    Hum Mol Genet; 1998 Jul 01; 7(7):1133-6. PubMed ID: 9618171
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