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Journal Abstract Search

220 related items for PubMed ID: 24930029

  • 1. A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
    Veneziano L, Parkinson MH, Mantuano E, Frontali M, Bhatia KP, Giunti P.
    Cerebellum; 2014 Oct; 13(5):588-95. PubMed ID: 24930029
    [Abstract] [Full Text] [Related]

  • 2. Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
    Thust S, Veneziano L, Parkinson MH, Bhatia KP, Mantuano E, Gonzalez-Robles C, Davagnanam I, Giunti P.
    Neurogenetics; 2022 Apr; 23(2):91-102. PubMed ID: 35079915
    [Abstract] [Full Text] [Related]

  • 3. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.
    Trevisani V, Predieri B, Madeo SF, Fusco C, Garavelli L, Caraffi S, Iughetti L.
    J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):411-415. PubMed ID: 34710315
    [Abstract] [Full Text] [Related]

  • 4. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
    Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.
    J Neurol Neurosurg Psychiatry; 2012 Oct 28; 83(10):956-62. PubMed ID: 22832740
    [Abstract] [Full Text] [Related]

  • 5. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
    Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P.
    Neurogenetics; 2005 Dec 28; 6(4):209-15. PubMed ID: 16220345
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  • 6. [Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].
    Salvado M, Boronat-Guerrero S, Hernández-Vara J, Álvarez-Sabin J.
    Rev Neurol; 2013 May 16; 56(10):515-20. PubMed ID: 23658034
    [Abstract] [Full Text] [Related]

  • 7. Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.
    Bauer P, Kreuz FR, Bürk K, Saft C, Andrich J, Heilemann H, Riess O, Schöls L.
    Mov Disord; 2006 Oct 16; 21(10):1734-7. PubMed ID: 16830318
    [Abstract] [Full Text] [Related]

  • 8. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.
    Glik A, Vuillaume I, Devos D, Inzelberg R.
    Mov Disord; 2008 Sep 15; 23(12):1744-7. PubMed ID: 18661567
    [Abstract] [Full Text] [Related]

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  • 10. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.
    Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, Robitaille Y, Vuissoz JM, Payot A, Laberge S, Vassart G, Van Vliet G, Deladoëy J.
    J Clin Endocrinol Metab; 2009 Jan 15; 94(1):197-203. PubMed ID: 18957494
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  • 12. Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.
    Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D.
    J Neurol Sci; 2008 Jan 15; 264(1-2):56-62. PubMed ID: 17765926
    [Abstract] [Full Text] [Related]

  • 13. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
    Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U.
    Mol Genet Genomic Med; 2021 Apr 15; 9(4):e1647. PubMed ID: 33666368
    [Abstract] [Full Text] [Related]

  • 14. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
    Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE.
    Thyroid; 2008 Sep 15; 18(9):1005-9. PubMed ID: 18788921
    [Abstract] [Full Text] [Related]

  • 15. Benign hereditary chorea: an update.
    Inzelberg R, Weinberger M, Gak E.
    Parkinsonism Relat Disord; 2011 Jun 15; 17(5):301-7. PubMed ID: 21292530
    [Abstract] [Full Text] [Related]

  • 16. A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
    Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S.
    J Neurol Sci; 2012 Feb 15; 313(1-2):189-92. PubMed ID: 21982616
    [Abstract] [Full Text] [Related]

  • 17. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
    Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T.
    Neurology; 2005 Jun 14; 64(11):1952-4. PubMed ID: 15955952
    [Abstract] [Full Text] [Related]

  • 18. TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.
    Fons C, Rizzu P, Garcia-Cazorla A, Martorell L, Ormazabal A, Artuch R, Campistol J, Fernandez-Alvarez E.
    Brain Dev; 2012 Mar 14; 34(3):255-7. PubMed ID: 21555194
    [Abstract] [Full Text] [Related]

  • 19. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.
    Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P.
    J Clin Endocrinol Metab; 2006 May 14; 91(5):1832-41. PubMed ID: 16507635
    [Abstract] [Full Text] [Related]

  • 20. Mutations in TITF-1 are associated with benign hereditary chorea.
    Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P.
    Hum Mol Genet; 2002 Apr 15; 11(8):971-9. PubMed ID: 11971878
    [Abstract] [Full Text] [Related]

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