Literature DB >> 12874424

GAA expansion size and age at onset of Friedreich's ataxia.

I Mateo1, J Llorca, V Volpini, J Corral, J Berciano, O Combarros.   

Abstract

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Year:  2003        PMID： 12874424     DOI： 10.1212/01.wnl.0000073537.08141.77

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


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  5 in total

1.  Very late-onset Friedreich ataxia: later than life expectancy?

Authors:  Vincent Alvarez; Pierre Arnold; Thierry Kuntzer
Journal:  J Neurol       Date:  2013-02-22       Impact factor: 4.849

Review 2.  On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.

Authors:  Alexandra N Khristich; Sergei M Mirkin
Journal:  J Biol Chem       Date:  2020-02-14       Impact factor: 5.157

3.  Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.

Authors:  John H Willis; Grazia Isaya; Oleksandr Gakh; Roderick A Capaldi; Michael F Marusich
Journal:  Mol Genet Metab       Date:  2008-05-15       Impact factor: 4.797

4.  A universal mechanism ties genotype to phenotype in trinucleotide diseases.

Authors:  Shai Kaplan; Shalev Itzkovitz; Ehud Shapiro
Journal:  PLoS Comput Biol       Date:  2007-10-16       Impact factor: 4.475

5.  Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Authors:  Haloom Rafehi; David J Szmulewicz; Mark F Bennett; Nara L M Sobreira; Kate Pope; Katherine R Smith; Greta Gillies; Peter Diakumis; Egor Dolzhenko; Michael A Eberle; María García Barcina; David P Breen; Andrew M Chancellor; Phillip D Cremer; Martin B Delatycki; Brent L Fogel; Anna Hackett; G Michael Halmagyi; Solange Kapetanovic; Anthony Lang; Stuart Mossman; Weiyi Mu; Peter Patrikios; Susan L Perlman; Ian Rosemergy; Elsdon Storey; Shaun R D Watson; Michael A Wilson; David S Zee; David Valle; David J Amor; Melanie Bahlo; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2019-06-20       Impact factor: 11.025
  5 in total

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