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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

390 related items for PubMed ID: 12975293

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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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  • 4. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
    Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph AC.
    Ann Neurol; 1998 Jul; 44(1):126-8. PubMed ID: 9667600
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  • 5. 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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  • 6. Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
    Hjermind LE, Werdelin LM, Sørensen SA.
    Eur J Hum Genet; 2002 Mar 01; 10(3):213-6. PubMed ID: 11973627
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  • 9. Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
    Ritz K, Groen JL, Kruisdijk JJ, Baas F, Koelman JH, Tijssen MA.
    Mov Disord; 2009 Jul 15; 24(9):1390-2. PubMed ID: 19441135
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  • 13. Writer's cramp in an Australian pedigree with DYT1 dystonia.
    van den Bos M, Marotta R, Goldup S, Chataway T, Firgaira F, Thyagarajan D.
    J Clin Neurosci; 2004 Jun 15; 11(5):537-9. PubMed ID: 15177405
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  • 14. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
    Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M.
    Brain; 2007 Jan 15; 130(Pt 1):134-42. PubMed ID: 17105745
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  • 16. 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 15; 36(5):771-7. PubMed ID: 7979224
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  • 20. Clinical and genetic evaluation in a French population presenting with primary focal dystonia.
    Dhaenens CM, Krystkowiak P, Douay X, Charpentier P, Bele S, Destée A, Sablonnière B.
    Mov Disord; 2005 Jul 15; 20(7):822-5. PubMed ID: 15726581
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