Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

Journal of the Neurological Sciences

Volumn 360, Issue , 2016, Pages 78-83

  Provenzano, Claudia ^a   Zamboni, Michela ^a   Veneziano, Liana ^b   Mantuano, Elide ^b   Garavaglia, Barbara ^c   Zorzi, Giovanna ^c   Pagonabarraga, Javier ^d   Giunti, Paola ^e   Civitareale, Donato ^a  

^a Research Council of Agriculture   (Italy)

^b INSTITUTE OF TRANSLATIONAL PHARMACOLOGY   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Benign hereditary chorea; Brain thyroid lung syndrome; Genotype phenotype correlation; Neurological disease; TTF 1 Nkx2.1

Indexed keywords

AMANTADINE; ANTINEOPLASTIC AGENT; DNA; GENOMIC DNA; GLUTAMINE; HISTIDINE; HOMEODOMAIN PROTEIN; LEUCINE; LEVOTHYROXINE; SERINE; SURFACTANT PROTEIN C; THYROGLOBULIN; THYROID PEROXIDASE; THYROID TRANSCRIPTION FACTOR 1; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.1; TRYPTOPHAN; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; THYROID NUCLEAR FACTOR 1;

ADULT; ARTICLE; ATAXIA; ATAXIC GAIT; CANCER CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER SURGERY; CASE REPORT; CEREBELLUM ATROPHY; CODON; DNA BINDING ASSAY; DNA SEQUENCE; DROP ATTACK; DYSMETRIA; EXON; FEMALE; GLIOBLASTOMA; HETEROZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HUMAN CELL; HUNTINGTON CHOREA; HYPERKINESIA; HYPOTHYROIDISM; INVOLUNTARY MOVEMENT; MISSENSE MUTATION; MYOCLONUS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; TONIC CLONIC SEIZURE; WILD TYPE; CHILD; CHOREA; GENETICS; MALE; PHENOTYPE;

ADULT; CHILD; CHOREA; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHENOTYPE; PROMOTER REGIONS, GENETIC; TRANSCRIPTION FACTORS;

EID: 84955441554     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2015.11.050     Document Type: Article

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