Associated Papers
Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.
Skwara J et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2024
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_27
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
Thust S et al.
Neurogenetics, 2022
Benign Hereditary Chorea: An Update.
Peall KJ et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
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.
Veneziano L et al.
Cerebellum (london, England), 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A et al.
Journal of Medical Genetics, 2014
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Gras D et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.
Costa MC et al.
Neurogenetics, 2005
Mutations in TITF-1 are associated with benign hereditary chorea.
Breedveld GJ et al.
Human Molecular Genetics, 2002
Select a paper to view details