Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
about
Benign hereditary chorea related to NKX2-1 with ataxia and dystoniaThe phenotypic spectrum of DYT24 due to ANO3 mutations.A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Recent advances in genetics of choreaPhenotypic insights into ADCY5-associated disease.Murine hypothalamic destruction with vascular cell apoptosis subsequent to combined administration of human papilloma virus vaccine and pertussis toxin.Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.The genetics of dystonia: new twists in an old tale.Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).Benign hereditary chorea: clinical and neuroimaging features in an Italian family.Primary Myoclonus-Dystonia: A Diagnosis Often Missed in Children.Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene.NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
P2860
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P2860
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Clinical differentiation of ge ...... chorea and myoclonus-dystonia.
@en
type
label
Clinical differentiation of ge ...... chorea and myoclonus-dystonia.
@en
prefLabel
Clinical differentiation of ge ...... chorea and myoclonus-dystonia.
@en
P2093
P50
P356
P1433
P1476
Clinical differentiation of ge ...... chorea and myoclonus-dystonia.
@en
P2093
Anita Devlin
Friedrich Asmus
Marita Munz
P2860
P304
P356
10.1002/MDS.21692
P407
P577
2007-10-01T00:00:00Z