Literature DB >> 20179742

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Jorge Sequeiros1, Joanne Martindale, Sara Seneca, Paola Giunti, Outi Kämäräinen, Victor Volpini, Helga Weirich, Kyproula Christodoulou, Nazli Bazak, Richard Sinke, Anna Sulek-Piatkowska, Javier Garcia-Planells, Mark Davis, Marina Frontali, Petra Hämäläinen, Stefan Wieczorek, Christine Zühlke, Maria-Luiza Saraiva-Pereira, Jon Warner, Eric Leguern, Francine Thonney, Beatriz Quintáns Castro, Jenni Jonasson, Katrien Storm, Anna Andersson, Anna Ravani, Luís Correia, Isabel Silveira, Isabel Alonso, Carla Martins, Jorge Pinto Basto, Paula Coutinho, Andreia Perdigão, David Barton, Mary Davis.   

Abstract

Mesh：

Year:  2010        PMID： 20179742      PMCID： PMC2987475          DOI： 10.1038/ejhg.2010.8

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  13 in total

1.  Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.

Authors:  Jorge Sequeiros; Sara Seneca; Joanne Martindale
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246

2.  The ever expanding spinocerebellar ataxias. Editorial.

Authors:  Antoni Matilla-Dueñas
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847

3.  SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.

Authors:  Tania Cruz-Mariño; Yaimeé Vázquez-Mojena; Luis Velázquez-Pérez; Yanetza González-Zaldívar; Raúl Aguilera-Rodríguez; Miguel Velázquez-Santos; Annelié Estupiñán-Rodríguez; José Miguel Laffita-Mesa; Luis E Almaguer-Mederos; Milena Paneque
Journal:  J Community Genet       Date:  2015-04-19

4.  Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3).

Authors:  Ana Rosa Vieira Melo; Amanda Ramos; Nadiya Kazachkova; Mafalda Raposo; Bruno Filipe Bettencourt; Ana Rita Rendeiro; Teresa Kay; João Vasconcelos; Jácome Bruges-Armas; Manuela Lima
Journal:  Mol Diagn Ther       Date:  2016-12       Impact factor: 4.074

5.  Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.

Authors:  Tania Cruz-Mariño; Luis Velázquez-Pérez; Yanetza González-Zaldivar; Raúl Aguilera-Rodríguez; Miguel Velázquez-Santos; Yaimé Vázquez-Mojena; Annelié Estupiñán-Rodríguez; Rubén Reynaldo-Armiñán; Luis Enrique Almaguer-Mederos; José Miguel Laffita-Mesa; Victor Tamayo-Chiang; Milena Paneque
Journal:  J Community Genet       Date:  2013-05-15

Review 6.  Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.

Authors:  Kritika Raj; Ravi Shankar Akundi
Journal:  Mol Neurobiol       Date:  2021-02-24       Impact factor: 5.590

7.  Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.

Authors:  Lavínia Schuler-Faccini; Claudio Maria Osorio; Flavia Romariz; Milena Paneque; Jorge Sequeiros; Laura Bannach Jardim
Journal:  Genet Mol Biol       Date:  2014-03       Impact factor: 1.771

8.  Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.

Authors:  Amanda Ramos; Mafalda Raposo; Montserrat Milà; Conceição Bettencourt; Henry Houlden; Bulmaro Cisneros; Jonathan J Magaña; Bruno Filipe Bettencourt; Jácome Bruges-Armas; Cristina Santos; Manuela Lima
Journal:  J Mol Neurosci       Date:  2015-10-10       Impact factor: 3.444

9.  Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

Authors:  Shi-Rui Gan; Wang Ni; Yi Dong; Ning Wang; Zhi-Ying Wu
Journal:  PLoS One       Date:  2015-08-12       Impact factor: 3.240

10.  Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.

Authors:  Masharip Atadzhanov; Danielle C Smith; Mwila H Mwaba; Omar K Siddiqi; Alan Bryer; L Jacquie Greenberg
Journal:  Cerebellum Ataxias       Date:  2017-11-29
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