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Items: 1 to 20 of 99

1.

Benign hereditary chorea: an update.

Inzelberg R, Weinberger M, Gak E.

Parkinsonism Relat Disord. 2011 Jun;17(5):301-7. doi: 10.1016/j.parkreldis.2011.01.002. Epub 2011 Feb 3. Review.

PMID:
21292530
2.

Benign hereditary chorea revisited: a journey to understanding.

Kleiner-Fisman G, Lang AE.

Mov Disord. 2007 Dec;22(16):2297-305; quiz 2452. Review.

PMID:
17702033
3.

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. Epub 2007 Sep 4.

PMID:
17765926
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;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24.

PMID:
22832740
5.

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.

PMID:
11971878
6.

Benign hereditary chorea.

Kleiner-Fisman G.

Handb Clin Neurol. 2011;100:199-212. doi: 10.1016/B978-0-444-52014-2.00012-4. Review.

PMID:
21496579
7.

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;6(4):209-15. Epub 2005 Oct 12.

PMID:
16220345
8.

[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. Review. Spanish.

9.

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;21(10):1734-7.

PMID:
16830318
10.

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. doi: 10.1002/mds.22215.

PMID:
18661567
11.

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Saccà F, Peluso S, Macchia PE, Pappatà S, De Michele G.

Mov Disord. 2010 Jul 30;25(10):1491-6. doi: 10.1002/mds.23065.

PMID:
20544814
12.

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M.

Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31.

PMID:
19336474
13.

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. doi: 10.1007/s12311-014-0570-7. Review.

14.

NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.

Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS.

J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):373-8. doi: 10.1515/jpem-2013-0109.

PMID:
24129101
15.

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.

Devos D, Vuillaume I, de Becdelievre A, de Martinville B, Dhaenens CM, Cuvellier JC, Cuisset JM, Vallée L, Lemaitre MP, Bourteel H, Hachulla E, Wallaert B, Destée A, Defebvre L, Sablonnière B.

Mov Disord. 2006 Dec;21(12):2237-40.

PMID:
17044090
16.

A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome.

Williamson S, Kirkpatrick M, Greene S, Goudie D.

J Child Neurol. 2014 May;29(5):666-9. doi: 10.1177/0883073813518243. Epub 2014 Jan 21.

PMID:
24453141
17.

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;34(3):255-7. doi: 10.1016/j.braindev.2011.04.007. Epub 2011 May 8.

PMID:
21555194
18.

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin JP, Morris HR, Jungbluth H, Kurian MA.

Dev Med Child Neurol. 2014 Jul;56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31.

19.

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. doi: 10.1016/j.jns.2011.09.013. Epub 2011 Oct 5. Review.

PMID:
21982616
20.

Clinical and genetic heterogeneity in benign hereditary chorea.

Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF.

Neurology. 2002 Aug 27;59(4):579-84.

PMID:
12196653

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