Literature DB >> 16717236

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.

I Alonso1, L B Jardim, O Artigalas, M L Saraiva-Pereira, T Matsuura, T Ashizawa, J Sequeiros, I Silveira.   

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Year:  2006        PMID： 16717236     DOI： 10.1212/01.wnl.0000216266.30177.bb

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  17 in total

1.  FMR1 gray-zone alleles: association with Parkinson's disease in women?

Authors:  Deborah A Hall; Elizabeth Berry-Kravis; Wenting Zhang; Flora Tassone; Elaine Spector; Gary Zerbe; Paul J Hagerman; Bichun Ouyang; Maureen A Leehey
Journal:  Mov Disord       Date:  2011-05-12       Impact factor: 10.338

2.  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

Review 3.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

4.  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

5.  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

6.  Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.

Authors:  Giovana B Bampi; Rafael Bisso-Machado; Tábita Hünemeier; Tailise C Gheno; Gabriel V Furtado; Diego Veliz-Otani; Mario Cornejo-Olivas; Pillar Mazzeti; Maria Cátira Bortolini; Laura B Jardim; Maria Luiza Saraiva-Pereira
Journal:  Neuromolecular Med       Date:  2017-09-13       Impact factor: 3.843

7.  A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.

Authors:  Joana Rocha Loureiro; Cláudia Louro Oliveira; Jorge Sequeiros; Isabel Silveira
Journal:  J Hum Genet       Date:  2018-06-11       Impact factor: 3.172

Review 8.  Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

Authors:  Roberto Rodríguez-Labrada; Ana Carolina Martins; Jonathan J Magaña; Yaimeé Vazquez-Mojena; Jacqueline Medrano-Montero; Juan Fernandez-Ruíz; Bulmaro Cisneros; Helio Teive; Karen N McFarland; Maria Luiza Saraiva-Pereira; César M Cerecedo-Zapata; Christopher M Gomez; Tetsuo Ashizawa; Luis Velázquez-Pérez; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2020-06       Impact factor: 3.847

9.  Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Authors:  Mario Cornejo-Olivas; Miguel Inca-Martinez; Raphael Machado Castilhos; Gabriel Vasata Furtado; Eduardo Preusser Mattos; Giovana Bavia Bampi; Sandra Leistner-Segal; Victoria Marca; Pilar Mazzetti; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2020-04       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
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