메뉴 건너뛰기




Volumn 25, Issue 10, 2010, Pages 1491-1495

Benign hereditary chorea: Clinical and neuroimaging features in an Italian family

Author keywords

Benign hereditary chorea; Congenital hypothyroidism; FDG PET; MRI; Thyroid transcription factor 1

Indexed keywords

FLUORODEOXYGLUCOSE F 18; LAMOTRIGINE; RISPERIDONE; TETRABENAZINE;

EID: 77954982866     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23065     Document Type: Article
Times cited : (28)

References (26)
  • 1
    • 38549114502 scopus 로고    scopus 로고
    • Benign hereditary chorea revisited: A journey to understanding
    • DOI 10.1002/mds.21644
    • Kleiner-Fisman G, Lang AE. Benign hereditary chorea revisited: a journey to understanding. Mov Disord 2007;22:2297-2305. (Pubitemid 351155973)
    • (2007) Movement Disorders , vol.22 , Issue.16 , pp. 2297-2305
    • Kleiner-Fisman, G.1    Lang, A.E.2
  • 2
    • 66149122629 scopus 로고    scopus 로고
    • Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: Rescue by PAX8 synergism in one case
    • Carré A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009;18:2266-2276.
    • (2009) Hum Mol Genet , vol.18 , pp. 2266-2276
    • Carré, A.1    Szinnai, G.2    Castanet, M.3
  • 5
    • 51849107486 scopus 로고    scopus 로고
    • A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea
    • Ferrara AM, De Michele G, Salvatore E, et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 2008;18:1005-1009.
    • (2008) Thyroid , vol.18 , pp. 1005-1009
    • Ferrara, A.M.1    De Michele, G.2    Salvatore, E.3
  • 6
    • 37549028382 scopus 로고    scopus 로고
    • Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
    • Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF. Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord 2007;22:2104-2119.
    • (2007) Mov Disord , vol.22 , pp. 2104-2119
    • Asmus, F.1    Devlin, A.2    Munz, M.3    Zimprich, A.4    Gasser, T.5    Chinnery, P.F.6
  • 10
    • 28344435213 scopus 로고    scopus 로고
    • Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
    • do Carmo Costa M, Costa C, Silva AP, et al. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 2005;6:209-215.
    • (2005) Neurogenetics , vol.6 , pp. 209-215
    • Do Carmo Costa, M.1    Costa, C.2    Silva, A.P.3
  • 12
    • 33846431982 scopus 로고    scopus 로고
    • 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, et al. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord 2006;21: 2237-2240.
    • (2006) Mov Disord , vol.21 , pp. 2237-2240
    • Devos, D.1    Vuillaume, I.2    De Becdelievre, A.3
  • 13
    • 33646411749 scopus 로고    scopus 로고
    • 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, et al. 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. J Clin Endocrinol Metab 2006;91: 1832-1841.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1832-1841
    • Moya, C.M.1    Perez De Nanclares, G.2    Castaño, L.3
  • 14
    • 36649028914 scopus 로고    scopus 로고
    • 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. Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. J Neurol Sci 2008; 264:56-62.
    • (2008) J Neurol Sci , vol.264 , pp. 56-62
    • Provenzano, C.1    Veneziano, L.2    Appleton, R.3    Frontali, M.4    Civitareale, D.5
  • 15
    • 58149373950 scopus 로고    scopus 로고
    • 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, et al. Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab 2009;94:197-203.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 197-203
    • Maquet, E.1    Costagliola, S.2    Parma, J.3
  • 16
    • 57049181326 scopus 로고    scopus 로고
    • Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation
    • Glik A, Vuillaume I, Devos D, Inzelberg R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008;23:1744-1747.
    • (2008) Mov Disord , vol.23 , pp. 1744-1747
    • Glik, A.1    Vuillaume, I.2    Devos, D.3    Inzelberg, R.4
  • 19
    • 0017163223 scopus 로고
    • Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family
    • Burns J, Neuhäuser G, Tomasi L. Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family. Neuropädiatrie 1976;7:431-438.
    • (1976) Neuropädiatrie , vol.7 , pp. 431-438
    • Burns, J.1    Neuhäuser, G.2    Tomasi, L.3
  • 20
    • 23444443878 scopus 로고    scopus 로고
    • Thyroid transcription factor 1 expression in small cell carcinoma of the urinary bladder: An immunohistochemical profile of 44 cases
    • Jones TD, Kernek KM, Yang XJ, et al. Thyroid transcription factor 1 expression in small cell carcinoma of the urinary bladder: an immunohistochemical profile of 44 cases. Hum Pathol 2005; 36:718-723.
    • (2005) Hum Pathol , vol.36 , pp. 718-723
    • Jones, T.D.1    Kernek, K.M.2    Yang, X.J.3
  • 21
    • 0033837870 scopus 로고    scopus 로고
    • Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
    • Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000;137:272-276.
    • (2000) J Pediatr , vol.137 , pp. 272-276
    • Iwatani, N.1    Mabe, H.2    Devriendt, K.3    Kodama, M.4    Miike, T.5
  • 22
    • 0036181474 scopus 로고    scopus 로고
    • Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
    • Krude H, Schütz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475-480.
    • (2002) J Clin Invest , vol.109 , pp. 475-480
    • Krude, H.1    Schütz, B.2    Biebermann, H.3
  • 23


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.