Literature DB >> 17026624

Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics.

J Greenberg, G A E Solomon, A A Vorster, J Heckmann, A Bryer.   

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Year:  2006        PMID： 17026624     DOI： 10.1111/j.1399-0004.2006.00680.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases.

Authors:  Miguel A Varela; Helen J Curtis; Andrew G L Douglas; Suzan M Hammond; Aisling J O'Loughlin; Maria J Sobrido; Janine Scholefield; Matthew J A Wood
Journal:  Eur J Hum Genet       Date:  2015-05-20       Impact factor: 4.246

Review 2.  Short non-coding RNA biology and neurodegenerative disorders: novel disease targets and therapeutics.

Authors:  Marc S Weinberg; Matthew J A Wood
Journal:  Hum Mol Genet       Date:  2009-04-15       Impact factor: 6.150

3.  Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

Authors:  Irene Paradisi; Vassiliki Ikonomu; Sergio Arias
Journal:  J Hum Genet       Date:  2015-11-05       Impact factor: 3.172

4.  Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.

Authors:  Janine Scholefield; Lauren Watson; Danielle Smith; Jacquie Greenberg; Matthew J A Wood
Journal:  Eur J Hum Genet       Date:  2014-03-26       Impact factor: 4.246

5.  Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.

Authors:  Raphael Machado de Castilhos; Gabriel Vasata Furtado; Tailise Conte Gheno; Paola Schaeffer; Aline Russo; Orlando Barsottini; José Luiz Pedroso; Diego Z Salarini; Fernando Regla Vargas; Maria Angélica de Faria Domingues de Lima; Clécio Godeiro; Luiz Carlos Santana-da-Silva; Maria Betânia Pereira Toralles; Silvana Santos; Hélio van der Linden; Hector Yuri Wanderley; Paula Frassineti Vanconcelos de Medeiros; Eliana Ternes Pereira; Erlane Ribeiro; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2014-02       Impact factor: 3.847

6.  Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.

Authors:  Lizbeth E García-Velázquez; Samuel Canizales-Quinteros; Sandra Romero-Hidalgo; Adriana Ochoa-Morales; Leticia Martínez-Ruano; Carla Márquez-Luna; Víctor Acuña-Alonzo; M Teresa Villarreal-Molina; M Elisa Alonso-Vilatela; Petra Yescas-Gómez
Journal:  Neurogenetics       Date:  2013-12-28       Impact factor: 2.660

7.  Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells.

Authors:  Richard J Burman; Lauren M Watson; Danielle C Smith; Joseph V Raimondo; Robea Ballo; Janine Scholefield; Sally A Cowley; Matthew J A Wood; Susan H Kidson; Leslie J Greenberg
Journal:  PLoS One       Date:  2021-02-24       Impact factor: 3.240

8.  Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.

Authors:  Janine Scholefield; L Jacquie Greenberg; Marc S Weinberg; Patrick B Arbuthnot; Amr Abdelgany; Matthew J A Wood
Journal:  PLoS One       Date:  2009-09-30       Impact factor: 3.240

9.  Spinocerebellar ataxia type-7: Report of a family in Northwest Nigeria.

Authors:  Nura Hamidu Alkali; Sunday A Bwala; Saeed A Alimi; Shyngle I Oyakhire
Journal:  Ann Afr Med       Date:  2016 Apr-Jun

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
  10 in total

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