Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

scientific article published on July 2010

Benign hereditary chorea: clinical and neuroimaging features in an Italian family. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/MDS.23065
P698PubMed publication ID20544814

P50authorPaolo Emidio MacchiaQ42847704
Silvio PelusoQ57122087
Elena SalvatoreQ57447403
Alfonso Massimiliano FerraraQ59663456
Francesco SaccàQ40816198
P2093author name stringLuigi Di Maio
Sabina Pappatà
Alessandro Filla
Carlo Rinaldi
Giuseppe De Michele
P2860cites workNew syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genesQ42502805
Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 geneQ44070693
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaQ45298770
Cerebral metabolism of glucose in benign hereditary choreaQ45299133
Benign familial chorea with onset in childhoodQ45302687
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.Q45304765
Clinical and genetic heterogeneity in benign hereditary choreaQ45306730
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary choreaQ46370824
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopaQ46546800
Benign hereditary chorea: clinical, neuroimaging, and genetic findingsQ46947660
Alterations of striatal neurons in benign hereditary choreaQ48829740
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutationQ49032380
Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary choreaQ58478856
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyQ24292331
Mutations in TITF-1 are associated with benign hereditary choreaQ24294966
Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new familyQ30578214
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 findingsQ34218750
Benign hereditary chorea revisited: a journey to understandingQ36911678
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystoniaQ36911688
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one caseQ37428331
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectHuntington's diseaseQ190564
neuroimagingQ551875
Benign hereditary choreaQ24977061
P304page(s)1491-1496
P577publication date2010-07-01
P1433published inMovement DisordersQ1486418
P1476titleBenign hereditary chorea: clinical and neuroimaging features in an Italian family
P478volume25