Literature DB >> 17149738

Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene.

Ashish Nanda, Sarah A Jackson, John D Schwankhaus, W Steven Metzer.   

Abstract

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Year:  2007        PMID： 17149738     DOI： 10.1002/mds.21275

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  12 in total

1.  Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?

Authors:  L Tremolizzo; N A Curtò; L Marzorati; F Lanzani; P Tarantino; G Annesi; C Ferrarese
Journal:  Neurol Sci       Date:  2011-06-28       Impact factor: 3.307

2.  Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

Authors:  Anna I Wernick; Ronald L Walton; Alexandra I Soto-Beasley; Shunsuke Koga; Michael G Heckman; Rebecca R Valentino; Lukasz M Milanowski; Dorota Hoffman-Zacharska; Dariusz Koziorowski; Anhar Hassan; Ryan J Uitti; William P Cheshire; Wolfgang Singer; Zbigniew K Wszolek; Dennis W Dickson; Phillip A Low; Owen A Ross
Journal:  Clin Auton Res       Date:  2021-01-27       Impact factor: 5.625

Review 3.  Parkinsonism in spinocerebellar ataxia.

Authors:  Hyeyoung Park; Han-Joon Kim; Beom S Jeon
Journal:  Biomed Res Int       Date:  2015-03-19       Impact factor: 3.411

4.  Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.

Authors:  Lulin Choubtum; Pirada Witoonpanich; Suchat Hanchaiphiboolkul; Roongroj Bhidayasiri; Onanong Jitkritsadakul; Sunsanee Pongpakdee; Suppachok Wetchaphanphesat; Pairoj Boonkongchuen; Teeratorn Pulkes
Journal:  BMC Neurol       Date:  2015-09-15       Impact factor: 2.474

5.  Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.

Authors:  Paola Origone; Fabio Gotta; Merit Lamp; Lucia Trevisan; Alessandro Geroldi; Davide Massucco; Matteo Grazzini; Federico Massa; Flavia Ticconi; Matteo Bauckneht; Roberta Marchese; Giovanni Abbruzzese; Emilia Bellone; Paola Mandich
Journal:  Cerebellum Ataxias       Date:  2018-03-14

6.  Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.

Authors:  Chao Wu; Qiong Cai; Huajing You; Xiangxue Zhou; Dingbang Chen; Guiling Mo; Xunhua Li
Journal:  Mol Genet Genomic Med       Date:  2019-03-28       Impact factor: 2.183

7.  Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Authors:  Suran Nethisinghe; Wei N Lim; Heather Ging; Anna Zeitlberger; Rosella Abeti; Sally Pemble; Mary G Sweeney; Robyn Labrum; Charisse Cervera; Henry Houlden; Elisabeth Rosser; Patricia Limousin; Angus Kennedy; Michael P Lunn; Kailash P Bhatia; Nicholas W Wood; John Hardy; James M Polke; Liana Veneziano; Alfredo Brusco; Mary B Davis; Paola Giunti
Journal:  Front Cell Neurosci       Date:  2018-11-23       Impact factor: 5.505

8.  Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.

Authors:  Troels Tolstrup Nielsen; Skirmante Mardosiene; Annemette Løkkegaard; Jette Stokholm; Susanne Ehrenfels; Sara Bech; Lars Friberg; Jens Kellberg Nielsen; Jørgen E Nielsen
Journal:  BMC Neurol       Date:  2012-08-13       Impact factor: 2.474

9.  The Pathogenic Role of Low Range Repeats in SCA17.

Authors:  Jung Hwan Shin; Hyeyoung Park; Gwan Hee Ehm; Woong Woo Lee; Ji Young Yun; Young Eun Kim; Jee-Young Lee; Han-Joon Kim; Jong-Min Kim; Beom Seok Jeon; Sung-Sup Park
Journal:  PLoS One       Date:  2015-08-12       Impact factor: 3.240

10.  Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population.

Authors:  Szu-Ju Chen; Ni-Chung Lee; Yin-Hsiu Chien; Wuh-Liang Hwu; Chin-Hsien Lin
Journal:  Brain Behav       Date:  2019-09-16       Impact factor: 2.708
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