Literature DB >> 11697534

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype.

B P van de Warrenburg, C W Frenken, M G Ausems, T Kleefstra, R J Sinke, N V Knoers, H P Kremer.   

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Year:  2001        PMID： 11697534     DOI： 10.1007/s004150170082

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  19 in total

1.  Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.

Authors:  Claudia Cagnoli; Giovanni Stevanin; Chiara Michielotto; Giovanni Gerbino Promis; Alessandro Brussino; Patrizia Pappi; Alexandra Durr; Elisa Dragone; Michelle Viemont; Cinzia Gellera; Alexis Brice; Nicola Migone; Alfredo Brusco
Journal:  J Mol Diagn       Date:  2006-02       Impact factor: 5.568

2.  Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.

Authors:  Jonathan J Magaña; Yessica S Tapia-Guerrero; Luis Velázquez-Pérez; Tania Cruz-Mariño; Cesar M Cerecedo-Zapata; Rocío Gómez; Nadia M Murillo-Melo; Rigoberto González-Piña; Oscar Hernández-Hernández; Bulmaro Cisneros
Journal:  Int J Clin Exp Med       Date:  2014-12-15

3.  Spinocerebellar ataxia type 7 presenting as Stargardt's disease.

Authors:  Georgios Tsivgoulis; Sofia Vassilopoulou; Konstntinos Rallis; Nikolaos Markomichelakis; Konstantinos Spengos
Journal:  J Neurol       Date:  2007-12-20       Impact factor: 4.849

4.  Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.

Authors:  Satoshi Katagiri; Takaaki Hayashi; Tomokazu Takeuchi; Hisashi Yamada; Tamaki Gekka; Kiyokazu Kawabe; Akira Kurita; Hiroshi Tsuneoka
Journal:  Doc Ophthalmol       Date:  2015-02-03       Impact factor: 2.379

5.  Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity.

Authors:  Y Torres-Ramos; A Montoya-Estrada; B Cisneros; K Tercero-Pérez; G León-Reyes; N Leyva-García; Oscar Hernández-Hernández; Jonathan J Magaña
Journal:  Cerebellum       Date:  2018-10       Impact factor: 3.847

Review 6.  Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders.

Authors:  Arun Kumar Verma; Eshan Khan; Sonali R Bhagwat; Amit Kumar
Journal:  Mol Neurobiol       Date:  2019-08-09       Impact factor: 5.590

Review 7.  Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.

Authors:  Anna Niewiadomska-Cimicka; Yvon Trottier
Journal:  Neurotherapeutics       Date:  2019-10       Impact factor: 7.620

8.  Wide Profiling of Circulating MicroRNAs in Spinocerebellar Ataxia Type 7.

Authors:  Verónica M Borgonio-Cuadra; Claudia Valdez-Vargas; Sandra Romero-Córdoba; Alfredo Hidalgo-Miranda; Yessica Tapia-Guerrero; César M Cerecedo-Zapata; Oscar Hernández-Hernández; Bulmaro Cisneros; Jonathan J Magaña
Journal:  Mol Neurobiol       Date:  2019-02-05       Impact factor: 5.590

Review 9.  The expanding role for chromatin and transcription in polyglutamine disease.

Authors:  Ryan D Mohan; Susan M Abmayr; Jerry L Workman
Journal:  Curr Opin Genet Dev       Date:  2014-08-11       Impact factor: 5.578

Review 10.  Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data.

Authors:  Karolina Świtońska-Kurkowska; Bart Krist; Joanna Delimata; Maciej Figiel
Journal:  Front Cell Dev Biol       Date:  2021-07-01
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