A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

Journal of the Neurological Sciences

Volumn 313, Issue 1-2, 2012, Pages 189-192

  Nakamura, Katsuya ^a   Sekijima, Yoshiki ^a,b   Nagamatsu, Kiyoshiro ^a   Yoshida, Kunihiro ^a   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY HOSPITAL   (Japan)

Author keywords

Benign hereditary chorea (BHC); Brain Thyroid Lung syndrome; Chorea; Hypothyroidism; Nkx2.1; Thyroid transcription factor 1 (TITF 1)

Indexed keywords

IODINE 123; LEVODOPA; LEVOTHYROXINE; OLANZAPINE; PROPRANOLOL; ROPINIROLE;

ADULT; ARTICLE; BLOOD EXAMINATION; BRAIN THYROID LUNG SYNDROME; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAM; ENVIRONMENTAL FACTOR; FEMALE; GENE; GENETIC DISORDER; HUMAN; HUNTINGTON CHOREA; INTELLIGENCE; JAPANESE; MALE; MOTOR DEVELOPMENT; NERVE CONDUCTION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SCINTIGRAPHY; THORAX RADIOGRAPHY; TITF 1 GENE; ULTRASOUND;

ASIAN CONTINENTAL ANCESTRY GROUP; CHOREA; CODON, NONSENSE; FEMALE; HUMANS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PEDIGREE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84855571424     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.09.013     Document Type: Article

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