Literature DB >> 15889413

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

Ana I Seixas, Martin H Maurer, Mark Lin, Colleen Callahan, Alka Ahuja, Tohru Matsuura, Christopher A Ross, Fuki M Hisama, Isabel Silveira, Russell L Margolis.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15889413     DOI： 10.1002/ajmg.a.30761

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  16 in total

1.  Spinocerebellar ataxia type 17 in a patient from an Indian kindred.

Authors:  Dietrich Haubenberger; Daniela Prayer; Peter Bauer; Walter Pirker; Alexander Zimprich; Eduard Auff
Journal:  J Neurol       Date:  2006-09-13       Impact factor: 4.849

2.  Size bias of fragile X premutation alleles in late-onset movement disorders.

Authors:  Sebastien Jacquemont; Maureen A Leehey; Randi J Hagerman; Laurel A Beckett; Paul J Hagerman
Journal:  J Med Genet       Date:  2006-05-24       Impact factor: 6.318

Review 3.  Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Authors:  Erin E Robertson; Deborah A Hall; Andrew R McAsey; Joan A O'Keefe
Journal:  Clin Neuropsychol       Date:  2016-08       Impact factor: 3.535

4.  An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.

Authors:  Alessandro Saluto; Alessandro Brussino; Flora Tassone; Carlo Arduino; Claudia Cagnoli; Patrizia Pappi; Paul Hagerman; Nicola Migone; Alfredo Brusco
Journal:  J Mol Diagn       Date:  2005-11       Impact factor: 5.568

5.  A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.

Authors:  S E Holmes; J S Wentzell; A I Seixas; C Callahan; I Silveira; C A Ross; R L Margolis
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

6.  A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Authors:  Ana I Seixas; Joana R Loureiro; Cristina Costa; Andrés Ordóñez-Ugalde; Hugo Marcelino; Cláudia L Oliveira; José L Loureiro; Ashutosh Dhingra; Eva Brandão; Vitor T Cruz; Angela Timóteo; Beatriz Quintáns; Guy A Rouleau; Patrizia Rizzu; Ángel Carracedo; José Bessa; Peter Heutink; Jorge Sequeiros; Maria J Sobrido; Paula Coutinho; Isabel Silveira
Journal:  Am J Hum Genet       Date:  2017-07-06       Impact factor: 11.025

7.  Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.

Authors:  Jun-Ling Wang; Hong Jiang; Shen Zhang; Qian Xu; Ya-Fang Zhou; Shu-Sheng Liao; Lu Shen; Xin-Xiang Yan; Huai-Xu Zhu; Qian Pan; Kun Xia; Bei-Sha Tang
Journal:  J Genet       Date:  2008-12       Impact factor: 1.166

8.  FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Authors:  Laia Rodriguez-Revenga; Beatriz Gómez-Anson; Esteban Muñoz; Dolores Jiménez; Monica Santos; Mar Tintoré; Gisela Martín; Luis Brieva; Montserrat Milà
Journal:  Mol Neurobiol       Date:  2007-06       Impact factor: 5.590

9.  Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).

Authors:  Giovanni Stevanin; Alexis Brice
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

10.  Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

Authors:  Teresa Almeida; Isabel Alonso; Sandra Martins; Eliana Marisa Ramos; Luísa Azevedo; Kinji Ohno; António Amorim; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Tohru Matsuura; Jorge Sequeiros; Isabel Silveira
Journal:  PLoS One       Date:  2009-02-23       Impact factor: 3.240
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.