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Journal Abstract Search

238 related items for PubMed ID: 15390074

  • 1. Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family.
    Moretti P, Hedera P, Wald J, Fink J.
    Mov Disord; 2005 Feb; 20(2):245-7. PubMed ID: 15390074
    [Abstract] [Full Text] [Related]

  • 2. [DYT1 positive generalised dystonia: a case study of two siblings].
    Bereznai B, Baraczka K, Nagy Z, Molnár MJ.
    Ideggyogy Sz; 2007 Jul 30; 60(7-8):342-7. PubMed ID: 17713116
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.
    Kim MJ, Jeon SR, Yoo HW, Kim GH, Lee MC, Chung SJ.
    Mov Disord; 2008 Nov 15; 23(15):2251-5. PubMed ID: 18823049
    [Abstract] [Full Text] [Related]

  • 5. [Identification of DYT1 mutation in patients with primary torsion dystonia patients in China].
    Yang JF, Li JY, Li YJ, Zhang YL, Chen B.
    Zhonghua Yi Xue Za Zhi; 2007 Sep 04; 87(33):2324-7. PubMed ID: 18036294
    [Abstract] [Full Text] [Related]

  • 6. Clinical and genetic characterization of a large Dutch family with primary focal dystonia.
    Contarino MF, Berger-Plantinga E, Foncke EM, Ritz K, Mellema J, Baas F, Speelman JD, Tijssen MA.
    Mov Disord; 2008 Oct 30; 23(14):1998-2003. PubMed ID: 18823044
    [Abstract] [Full Text] [Related]

  • 7. The monogenic primary dystonias.
    Müller U.
    Brain; 2009 Aug 30; 132(Pt 8):2005-25. PubMed ID: 19578124
    [Abstract] [Full Text] [Related]

  • 8. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?
    Brüggemann N, Kock N, Lohmann K, König IR, Rakovic A, Hagenah J, Schmidt A, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C.
    Neurology; 2009 Apr 21; 72(16):1441-3. PubMed ID: 19380705
    [No Abstract] [Full Text] [Related]

  • 9. Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.
    Szczaluba K, Jurek M, Milewski M, Friedman A, Kadziolka B, Szolna A, Bal J, Mazurczak T.
    Eur J Neurol; 2007 Jun 21; 14(6):659-62. PubMed ID: 17539945
    [Abstract] [Full Text] [Related]

  • 10. 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 21; 11(5):537-9. PubMed ID: 15177405
    [Abstract] [Full Text] [Related]

  • 11. Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients.
    Naiya T, Biswas A, Neogi R, Datta S, Misra AK, Das SK, Ray K, Ray J.
    Acta Neurol Scand; 2006 Sep 21; 114(3):210-5. PubMed ID: 16911351
    [Abstract] [Full Text] [Related]

  • 12. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
    Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A.
    Neurology; 2006 Nov 28; 67(10):1769-73. PubMed ID: 17130408
    [Abstract] [Full Text] [Related]

  • 13. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
    Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O.
    Arch Neurol; 2003 Sep 28; 60(9):1266-70. PubMed ID: 12975293
    [Abstract] [Full Text] [Related]

  • 14. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS, Ko TS, Yoo HW, Chung SJ.
    Pediatr Neurol; 2008 May 28; 38(5):367-9. PubMed ID: 18410856
    [Abstract] [Full Text] [Related]

  • 15. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.
    Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, Muller UJ, Beckert S, Ehling R, Illig T, Wichmann HE, Poewe W, Mueller JC, Gasser T.
    Neurology; 2006 Nov 28; 67(10):1857-9. PubMed ID: 17130424
    [Abstract] [Full Text] [Related]

  • 16. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
    De Carvalho Aguiar P, Fuchs T, Borges V, Lamar KM, Silva SM, Ferraz HB, Ozelius L.
    Mov Disord; 2010 Dec 15; 25(16):2854-7. PubMed ID: 20925076
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 21(10):1782-4. PubMed ID: 16874761
    [Abstract] [Full Text] [Related]

  • 18. Early onset primary dystonia.
    Zorzi G, Zibordi F, Garavaglia B, Nardocci N.
    Eur J Paediatr Neurol; 2009 Nov 15; 13(6):488-92. PubMed ID: 19157930
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.
    Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A, French Dystonia Network.
    J Med Genet; 2006 May 15; 43(5):394-400. PubMed ID: 16227522
    [Abstract] [Full Text] [Related]

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