217 related articles for article (PubMed ID: 15955952)
21. 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; 11(8):971-9. PubMed ID: 11971878
[TBL] [Abstract][Full Text] [Related]
22. l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report.
Shiohama T; Ohashi H; Shimizu K; Fujii K; Oba D; Takatani T; Kato M; Shimojo N
Brain Dev; 2018 Apr; 40(4):353-356. PubMed ID: 29289388
[TBL] [Abstract][Full Text] [Related]
23. Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.
Rosati A; Berti B; Melani F; Cellini E; Procopio E; Guerrini R
Dev Med Child Neurol; 2015 Aug; 57(8):777-9. PubMed ID: 25412988
[TBL] [Abstract][Full Text] [Related]
24. Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.
Teissier R; Guillot L; Carré A; Morandini M; Stuckens C; Ythier H; Munnich A; Szinnai G; de Blic J; Clement A; Leger J; Castanet M; Epaud R; Polak M
Horm Res Paediatr; 2012; 77(3):146-51. PubMed ID: 22488412
[TBL] [Abstract][Full Text] [Related]
25. 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
[TBL] [Abstract][Full Text] [Related]
26. Benign hereditary chorea: clinical, neuroimaging, and genetic findings.
Mahajnah M; Inbar D; Steinmetz A; Heutink P; Breedveld GJ; Straussberg R
J Child Neurol; 2007 Oct; 22(10):1231-4. PubMed ID: 17940252
[TBL] [Abstract][Full Text] [Related]
27. 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. PubMed ID: 24171694
[TBL] [Abstract][Full Text] [Related]
28. 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; 18(9):1005-9. PubMed ID: 18788921
[TBL] [Abstract][Full Text] [Related]
29. Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.
Provenzano C; Zamboni M; Veneziano L; Mantuano E; Garavaglia B; Zorzi G; Pagonabarraga J; Giunti P; Civitareale D
J Neurol Sci; 2016 Jan; 360():78-83. PubMed ID: 26723978
[TBL] [Abstract][Full Text] [Related]
30. 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. PubMed ID: 16220345
[TBL] [Abstract][Full Text] [Related]
31. Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.
Nettore IC; Mirra P; Ferrara AM; Sibilio A; Pagliara V; Kay CS; Lorenzoni PJ; Werneck LC; Bruck I; Dos Santos LH; Beguinot F; Salvatore D; Ungaro P; Fenzi G; Scola RH; Macchia PE
Thyroid; 2013 Jun; 23(6):675-82. PubMed ID: 23379327
[TBL] [Abstract][Full Text] [Related]
32. A Case of Chorea with Slow Saccades Caused by NKX2-1 Mutation.
Vercammen J; Terryn J; Van Daele S; Vermeer S; Vandenberghe W
Mov Disord Clin Pract; 2024 Jun; 11(6):738-741. PubMed ID: 38454250
[No Abstract] [Full Text] [Related]
33. Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.
Iodice A; Carecchio M; Zorzi G; Garavaglia B; Spagnoli C; Salerno GG; Frattini D; Mencacci NE; Invernizzi F; Veneziano L; Mantuano E; Angriman M; Fusco C
Brain Dev; 2019 Mar; 41(3):250-256. PubMed ID: 30352709
[TBL] [Abstract][Full Text] [Related]
34. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
Bruno MK; Lee HY; Auburger GW; Friedman A; Nielsen JE; Lang AE; Bertini E; Van Bogaert P; Averyanov Y; Hallett M; Gwinn-Hardy K; Sorenson B; Pandolfo M; Kwiecinski H; Servidei S; Fu YH; Ptácek L
Neurology; 2007 May; 68(21):1782-9. PubMed ID: 17515540
[TBL] [Abstract][Full Text] [Related]
35. NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.
McMichael G; Haan E; Gardner A; Yap TY; Thompson S; Ouvrier R; Dale RC; Gecz J; Maclennan AH
Eur J Med Genet; 2013 Sep; 56(9):506-9. PubMed ID: 23911641
[TBL] [Abstract][Full Text] [Related]
36. A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
Starling A; Schlesinger D; Kok F; Passos-Bueno MR; Vainzof M; Zatz M
Neurology; 2005 Dec; 65(11):1832-3. PubMed ID: 16344536
[TBL] [Abstract][Full Text] [Related]
37. Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1.
Esposito G; De Falco F; Brazzelli V; Montanari L; Larizza D; Salvatore F
J Dermatol Sci; 2009 Aug; 55(2):128-30. PubMed ID: 19556108
[No Abstract] [Full Text] [Related]
38. A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.
Ngan ES; Lang BH; Liu T; Shum CK; So MT; Lau DK; Leon TY; Cherny SS; Tsai SY; Lo CY; Khoo US; Tam PK; Garcia-Barceló MM
J Natl Cancer Inst; 2009 Feb; 101(3):162-75. PubMed ID: 19176457
[TBL] [Abstract][Full Text] [Related]
39. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.
Doyle DA; Gonzalez I; Thomas B; Scavina M
J Pediatr; 2004 Aug; 145(2):190-3. PubMed ID: 15289765
[TBL] [Abstract][Full Text] [Related]
40. [Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community].
Pérez-Póveda JC; Palacio LG; Arcos-Burgos M
Rev Neurol; 2005 Jul 16-31; 41(2):95-8. PubMed ID: 16028188
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]