Benign hereditary chorea: Clinical and neuroimaging features in an Italian family(356 views) Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Sacca F, Peluso S, Macchia PE, Pappata S, De Michele G
Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, I-80131, Napoli, Italy
Department of Endocrinology and Molecular and Clinical Oncology, Federico II University, Naples, Italy
Biostructure and Bioimaging Institute, CNR, Naples, Italy
Department of Neurological Sciences, Federico II University, Naples, Italy.
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Breedveld, G. J., Van Dongen, J. W. F., Danesino, C., Guala, A., Percy, A. K., Dure, L. S., Harper, P., Heutink, P., Mutations in TITF-1 are associated with benign hereditary chorea (2002) Human Molecular Genetics, 11 (8), pp. 971-979
Ferrara, A. M., De Michele, G., Salvatore, E., A novel NKX2. 1 mutation in a family with hypothyroidism and benign hereditary chorea (2008) Thyroid, 18, pp. 1005-1009
Breedveld, G. J., Percy, A. K., MacDonald, M. E., De Vries, B. B. A., Yapijakis, C., Dure, L. S., Ippel, E. F., Arts, W. F. M., Clinical and genetic heterogeneity in benign hereditary chorea (2002) Neurology, 59 (4), pp. 579-584
Moya, C. M., Perez De Nanclares, G., Casta o, L., 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 (2006) J Clin Endocrinol Metab, 91, pp. 1832-1841
De Vries, B. B., Arts, W. F., Breedveld, G. J., Hoogeboom, J. J., Niermeijer, M. F., Heutink, P., Benign hereditary chorea of early onset maps to chromosome 14q (2000) Am J Hum Genet, 66, pp. 136-142
Chun, R. W., Daly, R. F., Mansheim Jr., B. J., Wolcott, G. J., Benign familial chorea with onset in childhood (1973) JAMA, 225, pp. 1603-1607
Burns, J., Neuh user, G., Tomasi, L., Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family (1976) Neurop diatrie, 7, pp. 431-438
Jones, T. D., Kernek, K. M., Yang, X. J., Thyroid transcription factor 1 expression in small cell carcinoma of the urinary bladder: An immunohistochemical profile of 44 cases (2005) Hum Pathol, 36, pp. 718-723
Krude, H., Sch tz, B., Biebermann, H., Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency (2002) J Clin Invest, 109, pp. 475-480
Benign hereditary chorea: Clinical and neuroimaging features in an Italian family