✦ LIBER ✦

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

✍ Scribed by Claudia Provenzano; Liana Veneziano; Richard Appleton; Marina Frontali; Donato Civitareale

Book ID: 119302434
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 441 KB
Volume: 264
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2007.06.056

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel nonsense mutation in the TITF-1

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

✍ Katsuya Nakamura; Yoshiki Sekijima; Kiyoshiro Nagamatsu; Kunihiro Yoshida; Shu-i 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 234 KB

Benign hereditary chorea: dopaminergic b

Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronicNKX2.1gene mutation

✍ Konishi, Takashi; Kono, Satoshi; Fujimoto, Masaya; Terada, Tatsuhiro; Matsushita 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 515 KB

Nonsense mutation inTITF1in a Portuguese

Nonsense mutation inTITF1in a Portuguese family with benign hereditary chorea

✍ Maria do Carmo Costa; Cristina Costa; Ana Paula Silva; Pedro Evangelista; Luís S 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 376 KB

Psychosis, short stature in benign hered

Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation

✍ Amir Glik; Isabelle Vuillaume; David Devos; Rivka Inzelberg 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 641 KB

## Abstract Benign hereditary chorea (BHC) is a rare autosomal dominant nonprogressive movement disorder. In some cases the phenotype includes, besides choreoathetosis, thyroid dysfunction and pulmonary infections in infancy, as expressed by the name “Brain‐Thyroid‐Lung syndrome”. Mutations in the

New syndromic form of benign hereditary

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

✍ David Devos; Isabelle Vuillaume; Alix De Becdelievre; Berengère De Martinville; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB

## Abstract Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood‐onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood‐onset chorea. Three affected patients from

TITF-1 gene mutation in a case of sporad

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

✍ Carmen Fons; Patrizia Rizzu; Angels Garcia-Cazorla; Loreto Martorell; Aida Ormaz 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 93 KB