Literature DB >> 11835387

Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10.

Tohru Matsuura, Tetsuo Ashizawa.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 11835387     DOI： 10.1002/ana.10049

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  14 in total

1.  Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model.

Authors:  Misti White; Guangbin Xia; Rui Gao; Maki Wakamiya; Partha S Sarkar; Karen McFarland; Tetsuo Ashizawa
Journal:  J Neurosci Res       Date:  2011-11-08       Impact factor: 4.164

2.  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

3.  Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.

Authors:  Tatsuaki Kurosaki; Tohru Matsuura; Kinji Ohno; Shintaroh Ueda
Journal:  Neurogenetics       Date:  2008-01-16       Impact factor: 2.660

4.  Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Authors:  Hatasu Kobayashi; Koji Abe; Tohru Matsuura; Yoshio Ikeda; Toshiaki Hitomi; Yuji Akechi; Toshiyuki Habu; Wanyang Liu; Hiroko Okuda; Akio Koizumi
Journal:  Am J Hum Genet       Date:  2011-06-16       Impact factor: 11.025

5.  Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.

Authors:  Karen N McFarland; Jilin Liu; Ivette Landrian; Desmond Zeng; Salmo Raskin; Mariana Moscovich; Emilia M Gatto; Adriana Ochoa; Hélio A G Teive; Astrid Rasmussen; Tetsuo Ashizawa
Journal:  Neurogenetics       Date:  2013-12-07       Impact factor: 2.660

6.  Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

Authors:  Tohru Matsuura; Ping Fang; Christopher E Pearson; Parul Jayakar; Tetsuo Ashizawa; Benjamin B Roa; David L Nelson
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

7.  Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Authors:  Linda L Bachinski; Bjarne Udd; Giovanni Meola; Valeria Sansone; Guillaume Bassez; Bruno Eymard; Charles A Thornton; Richard T Moxley; Peter S Harper; Mark T Rogers; Karin Jurkat-Rott; Frank Lehmann-Horn; Thomas Wieser; Josep Gamez; Carmen Navarro; Armand Bottani; Andre Kohler; Mark D Shriver; Riitta Sallinen; Maija Wessman; Shanxiang Zhang; Fred A Wright; Ralf Krahe
Journal:  Am J Hum Genet       Date:  2003-09-10       Impact factor: 11.025

8.  Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10.

Authors:  Misti C White; Rui Gao; Weidong Xu; Santi M Mandal; Jung G Lim; Tapas K Hazra; Maki Wakamiya; Sharon F Edwards; Salmo Raskin; Hélio A G Teive; Huda Y Zoghbi; Partha S Sarkar; Tetsuo Ashizawa
Journal:  PLoS Genet       Date:  2010-06-10       Impact factor: 5.917

9.  Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.

Authors:  Karen N McFarland; Jilin Liu; Ivette Landrian; Rui Gao; Partha S Sarkar; Salmo Raskin; Mariana Moscovich; Emilia M Gatto; Hélio A G Teive; Adriana Ochoa; Astrid Rasmussen; Tetsuo Ashizawa
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246

10.  Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.

Authors:  Claudia Cagnoli; Chiara Michielotto; Tohru Matsuura; Tetsuo Ashizawa; Russell L Margolis; Susan E Holmes; Cinzia Gellera; Nicola Migone; Alfredo Brusco
Journal:  J Mol Diagn       Date:  2004-05       Impact factor: 5.568
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.