scholarly article | Q13442814 |
P356 | DOI | 10.1002/MDS.23065 |
P698 | PubMed publication ID | 20544814 |
P50 | author | Paolo Emidio Macchia | Q42847704 |
Silvio Peluso | Q57122087 | ||
Elena Salvatore | Q57447403 | ||
Alfonso Massimiliano Ferrara | Q59663456 | ||
Francesco Saccà | Q40816198 | ||
P2093 | author name string | Luigi Di Maio | |
Sabina Pappatà | |||
Alessandro Filla | |||
Carlo Rinaldi | |||
Giuseppe De Michele | |||
P2860 | cites work | New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes | Q42502805 |
Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene | Q44070693 | ||
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea | Q45298770 | ||
Cerebral metabolism of glucose in benign hereditary chorea | Q45299133 | ||
Benign familial chorea with onset in childhood | Q45302687 | ||
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. | Q45304765 | ||
Clinical and genetic heterogeneity in benign hereditary chorea | Q45306730 | ||
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea | Q46370824 | ||
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa | Q46546800 | ||
Benign hereditary chorea: clinical, neuroimaging, and genetic findings | Q46947660 | ||
Alterations of striatal neurons in benign hereditary chorea | Q48829740 | ||
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation | Q49032380 | ||
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea | Q58478856 | ||
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency | Q24292331 | ||
Mutations in TITF-1 are associated with benign hereditary chorea | Q24294966 | ||
Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family | Q30578214 | ||
Benign hereditary chorea--entity or syndrome? | Q33884389 | ||
Benign hereditary chorea of early onset maps to chromosome 14q. | Q34146067 | ||
Benign hereditary chorea: clinical, genetic, and pathological findings | Q34218750 | ||
Benign hereditary chorea revisited: a journey to understanding | Q36911678 | ||
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia | Q36911688 | ||
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case | Q37428331 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Huntington's disease | Q190564 |
neuroimaging | Q551875 | ||
Benign hereditary chorea | Q24977061 | ||
P304 | page(s) | 1491-1496 | |
P577 | publication date | 2010-07-01 | |
P1433 | published in | Movement Disorders | Q1486418 |
P1476 | title | Benign hereditary chorea: clinical and neuroimaging features in an Italian family | |
P478 | volume | 25 |